Disease #00114 (GA1 (glutaricaciduria, type 1 (GA-1)), OMIM:231670)

Official abbreviation GA1
Name glutaricaciduria, type 1 (GA-1)
OMIM ID 231670
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 811
Phenotype entries for this disease 832
Associated with 1 gene GCDH
Associated tissues -
Disease features autosomal recessive
Remarks -
Date created 2013-03-06 12:48:45 +01:00 (CET)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

811 entries on 9 pages. Showing entries 1 - 100.
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00000044 - PubMed: Bell 2011 Coriell sample - - - - - - - - GA1 - ASS1, ATP7B, DPYD, ETFB, GCDH, GLB1, HADHA, HGSNAT, IGHMBP2, KCNQ2, MKS1, MYO5A ASS1, ATP7B, DPYD, ETFB, GCDH, GLB1, HADHA, HGSNAT, IGHMBP2, MKS1, MYO5A, TMPPE 12 1 Global Variome, with Curator vacancy
00000094 - PubMed: Bell 2011 Coriell sample - - - - - - - - GA1 - AHI1, ARSB, ATP7B, BTD, ENPP1, ETFB, GCDH, GLB1, INVS, MYO5A, NPHS1, SERPINA1, SMPD1 AHI1, ARSB, ATP7B, BTD, ENPP1, ETFB, GCDH, GLB1, INVS, MYO5A, NPHS1, SERPINA1, SMPD1, TMPPE 14 1 Global Variome, with Curator vacancy
00000935 08900228-Fam1 II.4/ Table 1, Pat 1 PubMed: Amir 1989, PubMed: Anikster 1996 This patient was first described by Amir 1989 (kindred 1, generation IV, pat 4) and later again by Anikster (family 1, II-4) who also identified the mutation Family: Three siblings: one homozygous but asyptomatic brother (LOVD Indiv ID: 00000943), two sisters (one healthy, one a carrier); For pedigree see full texts M yes Israel Jewish;Kurdistan 08y - - - GA1 Disease course: quadriplegic dystonia, anarthria (HP:0002425); CT: fronto-temporal atrophy, loss of caudate nuclei GCDH GCDH 1 1 Katrin Hinderhofer
00000936 08900228-Fam2 II.13 PubMed: Amir 1989, PubMed: Anikster 1996 This patient was first described by Amir 1989 (kindred 2, generation II, pat 16) and later again by Anikster 1996 (family 2, II-13) who also identified the mutation; Family: Affected father (LOVD Indiv ID: 00000946); 12 siblings of which 8 died in infancy; two affected brothers (one asympt. = LOVD Indiv ID: 00000945), the other one affected but not genetically tested), two healthy sisters; For pedigree see full texts F yes Israel Arab muslim (family lives in Hebron area) - - - - GA1 At age 02y06m: mild developmental delay (HP:0011342) but no neurological signs; At age 03y: acute encephalopathic crisis ("Reye syndrome-like condition") (HP:0006846) during mild intercurrent illness with following dystonic quadriparesis (HP:0002273); CT: diffuse cortical atrophy, pronounced fronto-temporal atrophy, white matter hypodensities, loss of caudate nuclei GCDH GCDH, SYCE2 1 3 Katrin Hinderhofer
00000937 08900228-Fam3 II.7/ Table 1, Pat 3 PubMed: Anikster 1996 Family: Six siblings, five healthy (three carriers), one elder brother presented with acute quadriplegia at age 06m and died at age 12y; For pedigree see full text M yes Israel Arab muslim - - - - GA1 Disease course: At age 01y03m: marked hypotonia and quadriplegia; CT: frontotemporal atrophy, loss of caudate nuclei GCDH GCDH 1 1 Katrin Hinderhofer
00000938 08900228-Fam4 II.3/ Table 1, Pat 4 PubMed: Anikster 1996 Family: two siblings, one affected (LOVD Indiv ID; 00000950); For pedigree see full text; F yes Iraq Iraq;Jewish - - - - GA1 Disease course: At age 04y: hypotonia (HP:0001252), muscle weakness (HP:0003690), speech delay (HP:0000750); CT: frontotemporal atrophy GCDH GCDH 1 1 Katrin Hinderhofer
00000939 08900228-Fam5 II.3/ Table 1, Pat 5 PubMed: Anikster 1996 Family: three siblings, two affected sisters (LOVD Indiv ID: 00000951 & 00226095); For pedigree see full text M yes Israel Arab muslim (family lives in Hebron area) - - - - GA1 Disease course: At age 03y: dystonic posturing (HP:0002533); CT: frontotemporal atrophy, loss of caudate nuclei GCDH GCDH 1 1 Katrin Hinderhofer
00000940 08900228-Fam6 II.1 PubMed: Anikster 1996 Family: three siblings, one affected sister (LOVD Indiv ID: 00000953); For pedigree see full text F yes Israel Arab muslim (family lives in Hebron area) - - - - GA1 Dystonic quadriparesis (HP:0002273) GCDH GCDH, SYCE2 1 2 Katrin Hinderhofer
00000941 08900228-Fam7 II.2/ Table 1, Pat 7 PubMed: Anikster 1996 Family: four healthy siblings; For pedigree see full texts F yes Israel Arab muslim (family lives in a village in lower Galilee) - - - - GA1 Disease course: At age 08y: can walk freely but suffers from muscle hypertonia (HP:0001276) and ataxia (HP:0001251), mental and social social development normal; CT: frontotemporal atrophy GCDH GCDH 1 1 Katrin Hinderhofer
00000942 08900228-Fam8 II.1/ Table 1, Pat 8 PubMed: Mandel 1991, PubMed: Anikster 1996 This individual was first described by Mandel 1991. The mutation was identified by Anikster (a paternal muation could not be found); For pedigree see full text; Gradual improvement of motor performance after begin of dietary treatment and carnitine supplementation M yes Israel Arab muslim (family lives in a village in lower Galilee) - - - - GA1 Disease course: At age 06m hospitalization due to acute encephalopathic crisis (HP:0006846) with hypotonia (HP:0008947) and dystonia (HP:0001276) following mild upper respiratory infection; Examination upon admission: patient afebrile, irritable (HP:0000737) & very hypotonic, extreme weakness of neck muscles, tendon reflexes brisk, weight 3rd percentile, lenght 25th percentile, head circumference 75th percentile, anterior fontanel large and bulging, frontal bossing (HP:0002007), sunset eye phenomenon (HP:0012470), flat nasal bridge (HP:0005280), ocular fundi normal; Outcome thereafter: hypotonia with extremly poor head control (HP:0002421) and athetoid movements; Disease course: At age 01y01m: able to sit up and stand with support, hypotonia and athetoid movements greatly diminished, intellectual and social development satisfactory; At age 08y: Learning disability, normal muscle tone; EEG(age 06m): borderline normal; CT(age 06m): symmetrical CSF collections over frontal lobes, widening of basal cisterns, normal ventricles, consistent with external hydrocephalus, cortical sulci sligtly prominent, marked regression of temporal lobes with marked dilation of Sylvian fissures ("bat-wing" form), insular cisterns dilated, diffuse hypodensity of basal ganglia (lenticular nuclei) bilaterally which were NOT apparent in CT done at age 03m; CT(age01y01m): marked diminuition in width of Sylvian fissures (particularly right side), narrowing of frontal subarachnoid spaces, hypodensity of lenticular nuclei less prominent, slight hypodensity of periventricular white matter, mild prominence of cortical sulci GCDH GCDH 2 1 Katrin Hinderhofer
00000946 08900228-Fam2 I.1 PubMed: Anikster 1996 This patient was first described by Amir 1998 (kindred 2, generation I, pat 3). The mutation was identified by Anikster; Family: This patient has (with his heterozygous wife) 13 children of which eight died during infancy, three of the remaining five are affected; For pedigree see full texts M yes Israel Arab muslim (family lives in Hebron area) - - - - GA1 Asymptomatic; CT: fronto-temporal atrophy GCDH GCDH, SYCE2 1 1 Katrin Hinderhofer
00000950 08900228-Fam4 II.2 PubMed: Anikster 1996 Family: two siblings, one affected (LOVD Indiv ID: 00000938); For pedigree see full text M yes Iraq Iraq;Jewish - - - - GA1 At age 09y: Motor dyspraxia, learning difficulties; CT: frontotemporal atrophy GCDH GCDH 1 1 Katrin Hinderhofer
00000951 08900228-Fam5 II.4 PubMed: Anikster 1996 Family: three siblings, two affected (LOVD Indiv ID: 00000939, brother & 00226095, sister); For pedigree see full text F yes Israel Arab muslim (family lives in Hebron area) - - - - GA1 Severe retardation and quadriplegia (HP:0002445); CT: frontotemporal atrophy, loss of caudate nuclei, lissencephaly GCDH GCDH 1 1 Katrin Hinderhofer
00000953 08900228-Fam6 II.4/ Table 1, Pat 6 PubMed: Anikster 1996 Family: three siblings, one affected sister (LOVD Indiv ID: 00000940); For pedigree see full text F yes Israel Arab muslim (family lives in Hebron area) - - - - GA1 Disease course: At age 03y: normal psychomotor development GCDH GCDH, SYCE2 1 1 Katrin Hinderhofer
00000997 - - - - - - - - - - - GA1 - GCDH GCDH 1 1 Katrin Hinderhofer
00000999 - - - - - - - - - - - GA1 - GCDH GCDH 1 1 Katrin Hinderhofer
00001000 - - - - - - - - - - - GA1 - GCDH, GSN GCDH, GSN 2 1 Katrin Hinderhofer
00001001 - - - - - - - - - - - GA1 - GCDH GCDH 1 1 Katrin Hinderhofer
00001003 - - - - - - - - - - - GA1 - GCDH GCDH 1 1 Katrin Hinderhofer
00001048 15954035-Case report PubMed: Martinez Granero 2005 Family: one older sister (healthy); Begin of treatment at age 12m M no (Spain) - - - - - GA1 Cause of consultation: Progressive macrocephaly (HP:0004481) (> 97th percentile at 09m; at birth: head circumference 97th percentile); Other symptoms: normal psychomotor development (at age 07m able to sit), mild axial hypotonia (HP:0009062) without other neurologic or psychomotor alterations; At age 03y06m: normal psychomotor development (IQ 103), difficulties in speech (HP:0002465), no occurrence of encephalopathic crisis; MRI(at 12m): Frontotemporal atrophy, bilateral enlargement of subarachnoid spaces, inceased signal (T2) in pallidus nucleus, subtle signal (T2) in posterolateral region of thalamus, bilateral subdural hematomas in frontotemporal region (chronic on right side, subacute on left side), myelination delay without white matter lesions; MRI (at 03y06m): persistence of bilateral temporal atrophy, persistence of previous findings in myelination and basal ganglia GCDH GCDH 2 1 Katrin Hinderhofer
00001061 - PubMed: Höliner 2010 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Germany white - - - - GA1 see paper; ... GCDH GCDH 1 1 Katrin Hinderhofer
00001064 20732827-Pat.13 PubMed: van der Watt - M yes South Africa Asian - - - - GA1 Severely affected; Symptoms at diagnosis: Developm. delay (HP:0001263), hypotonia (HP:0001252), dystonia (HP:0001276); Neuroimaging: Typical (= varying degrees of macrocephaly, fronto-temporal brain atrophy, widened and fluid-filled pre-temporal and Sylvian fissures, extracerebral fluid collections, white matter changes and basal ganglia lesions) GCDH GCDH 1 1 Katrin Hinderhofer
00001071 21176883-Case 2 PubMed: Mushimoto 2011 Diagnosed by newborn screening F no Japan Japanese - - - - GA1 Outcome at age 05y04m: Normal developm.; No signs of neurologic complications evident during examinations at 04m, 05y and 07y GCDH GCDH 2 1 Isabelle Rinke
00001076 - PubMed: Busquets 2000 2-generation family F no Syria - - - - - GA1 psychomotor delay and slight macrocephaly; MRI (T2-weighed) showed bilateral hyperintensity of periventricular white matter, cerebellum hemipheres and both putamina; high excretion of glutarate and 3-hydroxyglutarate GCDH GCDH 2 1 Katrin Hinderhofer
00001083 11015709-Fam3 II.3 PubMed: Busquets 2000 2-generation family; Siblings: this patient is the twin of 11015709-Fam3 II.2 (LOVD Indiv ID: 00001084); one affected sister (10960496-Pat.21/ 11015709-Fam3II.1, LOVD Indiv ID: 00016569) and one carrier sibling (11015709-Fam3II.4, LOVD Indiv ID: 00001085) - no Spain - 00y00m00d - - - GA1 twin 2 GCDH GCDH 2 1 Katrin Hinderhofer
00001084 11015709-Fam3 II.2 PubMed: Busquets 2000 2-generation family; Siblings: this patient is the twin of 11015709-Fam3 II.3 (LOVD Indiv ID: 00001083); one affected sister (11015709-Fam3 II.1/ 11015709-Pat.21, LOVD Indiv ID: 00016569); one carrier sibling (11015709-Fam3 II.4, LOVD Indiv ID: 00001085) - no Spain - 00y00m00d - - - GA1 twin 1 GCDH GCDH 2 1 Katrin Hinderhofer
00001086 11015709-Fam1 II.1 PubMed: Busquets 2000, PubMed: Busquets 2000, PubMed: Campistol 1992, PubMed: Christensen 1997 This patient was first described by Campistol 1992 (Case report) and later again three times: Christensen 1997 (Fam 2), Busquets 2000:11015709-Fam1II.1, Busquets 2000:10960496-Pat 38; Family: two carrier siblings (a third sibling was lost by spontaneous abortion and found to be an affected girl); For pedigree see PubMed: Busquets 2000. M no Spain - - - - - GA1 Disease course: At age 07m: diarrhea (HP:00020149 followed by hypotonia (HP:0008947), prostration and right-sided clonic seizures (HP:0001250) with tonic gaze deviation to the right, during the following days: progressive dystonic tetraparesis (HP:0002273), irritabilty (HP:0000737); Disease course: two more febrile illnesses with presentation of hypotonia, increased dystonic posturing and unusal sleepyness; At age 01y11m: severe dystonic tetraparesis, poor social interaction, growth arrest at 3rd percentile, head circumference: 90th percentile; At present (age 10y): severely affected; CSF analysis(age 07m): normal; EEG(age 07m): 5 cycles/sec theta rhythm with interhemispheric asymmetry, delta waves on the right; MRI(age 07m): increased signal in basal ganglia (T2); CT(at age 07m15d): persistence of areas of low attenuation in basal ganglia GCDH GCDH 2 1 Katrin Hinderhofer
00001088 - PubMed: Busquets 2000, PubMed: Campistol 1992 affected sister of 11015709-Fam1II.1 F no Spain - 00y00m00d - - - GA1 ?, was unborn GCDH GCDH 2 1 Katrin Hinderhofer
00001092 11058907-FamW4II.2 PubMed: Tang 2000 Family: one carrier brother M ? China - - - - - GA1 Symptoms: extrapyramidal signs, macrocephaly; Neuroimaging: radiological changes in the caudate and putamen GCDH GCDH 2 1 Katrin Hinderhofer
00001096 11058907-FamW1II.1 PubMed: Tang 2000 - F ? China - - - - - GA1 Symptoms: extrapyramidal signs, macrocephaly; Neuroimaging: radiological changes in the caudate and putamen GCDH GCDH 2 1 Katrin Hinderhofer
00001099 11058907-FamW2II.1 PubMed: Tang 2000 Family: one healthy brother M ? China - - - - - GA1 Symptoms: extrapyramidal signs, macrocephaly; Neuroimaging: radiological changes in the caudate and putamen GCDH GCDH 2 1 Katrin Hinderhofer
00001102 11058907-FamW3II.1 PubMed: Tang 2000 Family: one healthy brother F yes China - - - - - GA1 Symptoms: extrapyramidal signs, macrocephaly; Neuroimaging: radiological changes in the caudate and putamen GCDH GCDH 1 1 Katrin Hinderhofer
00001105 11058907-FamMII.1 PubMed: Tang 2000 Family: One affected brother (FamMII.2) M ? China - - - - - GA1 Symptoms: extrapyramidal signs, macrocephaly; Neuroimaging: radiological changes in the caudate and putamen GCDH GCDH 2 1 Katrin Hinderhofer
00001106 11058907-FamMII.2 PubMed: Tang 2000 Family: one affected brother (FamMII.1) M ? China - - - - - GA1 Symptoms: extrapyramidal signs, macrocephaly; Neuroimaging: radiological changes in the caudate and putamen GCDH GCDH 2 1 Katrin Hinderhofer
00001109 - PubMed: Harting 2009 diagnosed by newborn screening M yes Turkey - - - - - GA1 macrocephaly, mild-mental retardation, MRI: severe, symmetrical widening of anterior CSF spaces and sylvian fissures, progressive grey matter abnormalities, white matter: delayed myelination; T2 hyperintensity of periventricular, lobar white matter, central tegmental tracts; neurologically asymptomatic patient GCDH GCDH 1 1 Katrin Hinderhofer
00001110 19433437-Case3 (Pat.37) PubMed: Harting 2009, PubMed: Boy 2017 This patient is described later again by Boy 2017 (c2); Diagnosed by newborn screening; Paternal mutation not found M no Germany - - - - - GA1 Normal motor and mental development; At latest follow-up (age 13y): asymptomatic; MRI: Immature pattern of gyration and myelination in combination with subependymal pseudocysts, wide anterior temporal and sylvian CSF spaces GCDH GCDH 1 1 Katrin Hinderhofer
00001111 19433437-Case4 (Pat.21) PubMed: Harting 2009, PubMed: Boy 2017 This patient is described later again by Boy 2017 (c6) who refers to Harting 2009. Geographic origin is dispalyed here as reported by Harting. Diagnosed as newborn by high-risk family screening Family: one affected elder brother = Harting 2009-Pat.22, Harting 2015-Pat.12 & Boy 2017-c7 (not c6 as reported there); LOVD Individual ID: 00001124) M no Germany Mixed: German-Indonesian - - - - GA1 Macrocephaly (HP:0000256), NO movement disorder, average IQ; At latest follow-up (age 24y): asymptomatic; MRI: characteristically wide anterior temporal and sylvian CSF spaces and atrophy (cerebellum most affected), white matter abnormalities with involvement of the median corpus callosum GCDH GCDH 2 1 Katrin Hinderhofer
00001112 19433437-Case 5 (Pat.#38) PubMed: Harting 2009, PubMed: Harting 2015, PubMed: Boy 2017 This patient is described again by Harting 2015 (Pat.9) and Boy 2017 (p1); Diagnosed by selective screening following late-onset of neurological symptoms (i.e. without reported preceding crises) F no Germany - - - - - GA1 Medical history: Normal development except for transient motor delay, no encephalopathic crisis despite of several immunizations and febrile infectious diseases, disliked protein-rich dairy products; At age 08y06m: Episode of non-febrile severe nausea, recurrent vomiting (HP:0002017), cephalgia (HP:0002315) and mild ataxia (HP:0001251) without evidence for infectious disease; Outcome after therapy: Normalization of neurologic symptoms (especially no dystonia or chorea), average IQ (96, HAWIK-III); MRI: Extensive white matter abnormalities, T2 hyperintensity of thalamus, tectal plate and periaqueductal zone; MRI (after initiation of treatment): subependymal nodules GCDH GCDH 2 1 Katrin Hinderhofer
00001113 - PubMed: Harting 2009 found in selective screening following acute encephalopathic crisis M ? Chile - - - - - GA1 severe disability, classic disease course GCDH GCDH 1 1 Katrin Hinderhofer
00001114 - PubMed: Harting 2009 diagnosed by selective screening following acute encephalopathic crisis M ? Chile - - - - - GA1 classic disease course, moderate disability GCDH GCDH 1 1 Katrin Hinderhofer
00001115 - PubMed: Harting 2009 diagnosed by selective screening following acute encephalopathic crisis F ? Chile - - - - - GA1 classic disease course, moderate disability GCDH GCDH 2 1 Katrin Hinderhofer
00001116 - PubMed: Harting 2009 diagnosed by selective screening following acute encephalopathic crisis F ? Croatia (Hrvatska) - - - - - GA1 classic disease course, severe disability GCDH GCDH 1 1 Katrin Hinderhofer
00001117 - PubMed: Harting 2009 diagnosed by selective screening following acute encephalopathic crisis M ? Chile - 04y - - - GA1 classic disease course, very severe disability GCDH GCDH 1 1 Katrin Hinderhofer
00001118 - PubMed: Harting 2009 diagnosed by selective screening following acute encephalopathic crisis F ? Chile - - - - - GA1 classic disease course, moderate disability GCDH GCDH 1 1 Katrin Hinderhofer
00001119 - PubMed: Harting 2009, PubMed: Boy 2018_2 This patient is described again by Boy 2018_2 (Pat 22); Diagnosed by selective screening following acute encephalopathic crisis F ? Germany - - - - - GA1 Severe movement disorder GCDH GCDH 1 1 Katrin Hinderhofer
00001120 - PubMed: Harting 2009 diagnosed by selective screening following acute encephalopathic crisis M ? Chile - - - - - GA1 classic disease course, mild disability GCDH GCDH 2 1 Katrin Hinderhofer
00001121 - PubMed: Harting 2009 diagnosed by selective screening following acute encephalopathic crisis M ? Chile - 13y - - - GA1 classic disease course, very severe disability GCDH GCDH 2 1 Katrin Hinderhofer
00001122 15985591-Patient 2 PubMed: Külkens 2005, PubMed: Boy 2017, PubMed: Harting 2009 The same patient is described later by Harting 2009 (Pat. 12) and Boy 2017 (p2). Geographic and ethnic origin is displayed here according to Külkens and Harting. Late-onset GA-1; A few months after begin of therapy full recovery from neurologic disease, increased tolerance to physical exercise and continuation of professional career; Family history: several different neurologic diseases M no Austria white - - - - GA1 Since age 03m: macrocephaly (HP:0000256); Infancy: various infectious diseases without complications; At age 15y: severe diffuse headache (HP:0002315) (also during physical exercise), progressive vertigo (HP:0002321) and gait disturbance (HP:0001288) after respiratory tract infection, psychomotor and speech development normal (but slow in comparision to younger brother; professional training as eletrical engineer), slightly reduced fine motor skills (HP:0007010), impaired motor balance (could not stand properly on one leg); MRI: Symmetric confluent abnormalities of supratentorial white matter, mild frontotemporal atrophy/hypoplasia (for more details see full text) GCDH GCDH 1 1 Katrin Hinderhofer
00001123 15985591-Patient 1 PubMed: Külkens 2005, PubMed: Harting 2009, PubMed: Boy 2017 The same Patient is described later by Harting 2009 (Pat.16) and Boy 2017 (p8); Adult-onset GA-1; Gait disturbance & communication skills improved partially after 03m of therapy (Mini-Mental State Examination = 8 (before) and 16 (after treatment) M ? Germany - - - - - GA1 Since infancy: macrocephaly (HP:0000256), various infectious diseases without encephalopathic crisis; At age 35y: severe intermittent headaches (HP:0002315); At age 50y: moderate tremor of both arms (HP:0200085); Between ages 54y - 62y: six tonic-clonic seizures (HP:0002069); At age 63y: begin of slowly progressive dementia (HP:0000726) and speech problems, aggressive behaviour (HP:0000718), acoustic and visual hallucinations (HP:0008765, HP:0002367), ataxia (HP:0001251) progressing to severe gait disturbance (HP:0001288) with frequent falls and fractures, repeated febrile episodes of unclear origin due to impaired temperature control; At age 66y: severe speech problems because of intermittent orofacial dyskinesia (HP:0002310), diminished reactions, disorientation in time, reduced tendon reflexes (HP:0001315), severely reduced fine motor skills (HP:0007010) and coordination (HP:0002370); MRI: wide temporo-polar CSF spaces, open Sylvian fissures, asymmetric white matter abnormalities (e.g. confluent signal changes of supratentorial white matter in frontal areas), generalized cortical atrophy GCDH GCDH 1 1 Katrin Hinderhofer
00001124 19433437-Pat.#22 PubMed: Harting 2009, PubMed: Harting 2015, PubMed: Boy 2017 This patient is described later again by Harting 2015 (25860816-Pat.12) and Boy 2017 (c7). Geographic origin is dispalyed here as reported by Harting. LOVD Indiv ID of younger brother: 00001111 (described by Boy 2017, c6 (not c4 as reported there, when considering genotype) & Harting 2009, Case 4); Diagnosed by selective screening due to macrocephaly M no Germany Mixed: Germany (parent#1), Indonesia (parent#2) - - - - GA1 Macrocephaly (HP:0000256); At latest follow-up (26y): asymptomatic; MRI (22y): two subependymal lesions, white matter changes, fronto-temporal hypoplasia (for detailed information see full text); MRI(after initiation of treatment): subependymal nodules GCDH GCDH 2 1 Katrin Hinderhofer
00001125 - PubMed: Harting 2009 diagnosed by selective screening due to macrocephaly M ? Croatia (Hrvatska) - - - - - GA1 asympt. disease course, none disability GCDH GCDH 2 1 Katrin Hinderhofer
00001126 19433437-Pat.35 PubMed: Harting 2009, PubMed: Kölker 2001 This patient was first described by Kölker 2001 (case report). Diagnosed by selective screening due to macrocephaly; Family: three elder siblings (all healthy); Begin of dietary treatment at age 01m M no Turkey - 09y - - - GA1 Examination at onset: no signs of increased intrcranial pressure, generalized hypotonia (HP:0008935), exaggerated tendon stretch reflexes, ankle clonus (HP:0011448); Disease course: during following 04m subsiding of neurologic signs, good psychomotor development with slight retrun of head circumference toward 97th percentile; At age 03m: no progression of frontotemporal atrophy in cranial ultrasonography; At age 06m: hospitalization due to acute encephalopathic crisis (HP:0006846) after febrile respiratory tract infection with obstructive bronchitis, worsening of crisis despite of immediate emergency treatment with subsequent bilateral striatal destruction (as seen in MRI); Outcome thereafter: dystonic-dyskinetic movement disorder (HP:0001276, HP:0100660) with axial hypotonia (HP:0009062), loss of head control and other previously acquired motor skills; partial recovery during following months but persistence of severe motor handicap GCDH GCDH 1 1 Katrin Hinderhofer
00001127 - PubMed: Harting 2009 diagnosed by high-risk newborn screening M ? Croatia (Hrvatska) - - - - - GA1 asympt. disease course, none disability GCDH GCDH 1 1 Katrin Hinderhofer
00001128 19433437-Pat.36 PubMed: Harting 2009, PubMed: Heringer 2010, PubMed: Boy 2018, PubMed: Boy 2018_2 This patient is also described by Heringer 2010 (21031586-Case 3 (PID 14)), Boy 2018 (PID 83) (suppl. material) and Boy 2018_2 (Pat 19); Diagnosed by high-risk newborn screening (One severely affected sibling died despite of early diagnosis); Received maintenance treatment, but didn't receive emergency treatment F ? Germany Turkish - - - - GA1 Initially asymptomatic, At age 09m: encephalopathic crisis (HP:0006846) during gastroenteritis due to >24h delayed emergency treatment --> Severe movement disorder with dystonia (HP:0001276), minor motor symptoms; Neuroimaging (at 09m): Striatal injury GCDH GCDH 1 1 Katrin Hinderhofer
00001129 - PubMed: Harting 2009 diagnosed by newborn screening M ? Turkey - - - - - GA1 classic disease course, two encephalopathic crisis at ages 01m & 05m, mild disability GCDH GCDH 1 1 Katrin Hinderhofer
00001130 - PubMed: Harting 2009 diagnosed by newborn screening M ? Turkey - - - - - GA1 asympt. disease course, none disability GCDH GCDH 1 1 Katrin Hinderhofer
00001131 - PubMed: Harting 2009, PubMed: Boy 2018 This patient is mentioned again by Boy 2018 (PID 53); Diagnosed by newborn screening F ? Germany - - - - - GA1 Asymptomatic disease course, no movement disorder at last visit GCDH GCDH 2 1 Katrin Hinderhofer
00001132 - PubMed: Harting 2009, PubMed: Boy 2018_2 This patient is described later again by Boy 2018_2 (Pat 4); Diagnosed by newborn screening; Received full treatment F ? Morocco - - - - - GA1 Disease course: first asymptomatic, then development of mild movement disorder GCDH GCDH 1 1 Katrin Hinderhofer
00001133 - PubMed: Harting 2009 Diagnosed by newborn screening M ? Turkey - - - - - GA1 asympt. disease course, none disability GCDH GCDH 1 1 Katrin Hinderhofer
00001134 17622945-Pat.7 (Table 1) PubMed: Kölker 2007,PubMed: Harting 2009 This patient is the same as 19433437-Pat.19 (Harting 2009) Diagnosed by newborn screening F ? Germany German - - - - GA1 Symptoms: Asymptomatic GCDH GCDH 2 1 Katrin Hinderhofer
00001135 - PubMed: Harting 2009 diagnosed by newborn screening F ? Romania - - - - - GA1 asympt. disease course, none disability GCDH GCDH 2 1 Katrin Hinderhofer
00001136 - PubMed: Harting 2009 diagnosed by newborn screening F ? Germany - - - - - GA1 asympt. disease course, none disability GCDH GCDH 2 1 Katrin Hinderhofer
00001137 17622945-Pat.4 (Table 1) PubMed: Kölker 2007, PubMed: Harting 2009 This patient is the same as 19433437-Pat.29 (Harting 2009); Diagnosed by newborn screening F ? Germany German - - - - GA1 Symptoms: Asymptomatic GCDH GCDH 2 1 Katrin Hinderhofer
00001138 - PubMed: Harting 2009 diagnosed by newborn screening F ? Germany - - - - - GA1 insidious disease course, mild disability GCDH GCDH 2 1 Katrin Hinderhofer
00001139 - PubMed: Park 2010 - F no Korea, South (Republic) - - - - - GA1 developmental delay, large head size, MRI: large amounts of bilateral subdural fluid collection, cerebral atrophy, high signal intensity in both basal ganglia GCDH GCDH 2 1 Katrin Hinderhofer
00001142 - PubMed: Park 2010 - M no Korea, South (Republic) - - - - - GA1 developmental delay, large head size, hearing impairment, loss of motor skills, MRI: asymmetric subdural fluid collection, suggesting hemorrhage with a mild mass effect GCDH GCDH 2 1 Katrin Hinderhofer
00001143 10066389-Case1 PubMed: Nyhan 1999 Family: One affected younger brohter (case 2; LOVD Indiv ID:00001144); Begin of carnitine and riboflavin supplementation and protein reduced diet at age 06y F no (United States) white - - - - GA1 Disease course: At age 03y06m: hypotonia, ataxia, ambulatory with guarded and limited balance (ataxic and wide-based gait, often falls), intention tremor, small choreiform movements of distal extremities, hyperextended knees; At age 06y05m: recent recovery from varicella without complications, dysarthric speech (drools when tired), many brief twitching involuntary movements, larger choreiform movements, dystonia, muscle tone decreased, reflexes normal; At age 09y: visits fourth grade, placement in program for gifted children (superior intelligence), falling less often but still athetoid and impressively dystonic, prominent hand tremor; MRI(age 07y): normal GCDH GCDH 2 1 Katrin Hinderhofer
00001144 10066389-Case2 PubMed: Nyhan 1999 Family: One affected older sister (case 1; LOVD Indiv ID:00001143 ); Begin of carnitine and riboflavin supplementation and protein reduced diet at age 01y05m M no (United States) white - - - - GA1 Disease course: At age 01y: begun to crawl and pull himself to stand (standing only with support), only one spoken syllable (receptive language development thought to be normal); At age 01y05m: moderate hypotonia, head circumference 40th percentile, deep tendon reflexes 3+ at quadriceps, blond hair, blue eyes, fair complexion; At age 01y09m: walked the first time (frequent falls), neurological examination otherwise normal; At age 03y03m: good muscle strength for short bursts of activity but no endurance, still frequent falls but able to walk and run, slow speech development (but spoke English and Spanish) GCDH GCDH 2 1 Katrin Hinderhofer
00001145 - PubMed: Chalmers 2006 - M no United Kingdom (Great Britain) - 02y06m - - - GA1 developmental regression with poor head control GCDH GCDH 2 1 Katrin Hinderhofer
00001146 - PubMed: Chalmers 2006 - F no Iraq - - - - - GA1 hypotonic, neurologically normal GCDH GCDH 2 1 Katrin Hinderhofer
00001147 16377226-Pat.2 PubMed: Chalmers 2006, PubMed: Dunger 1984 This patient was first described by Dunger 1984. The mutation was later identified by Chalmers 2005. Family: three siblings (all healthy) F no Bangladesh Bengali Indian - - - - GA1 Disease course: continuation of episodes of drowsiness, vomiting and convulsions (HP:0001250); positive intradermal skin test for tuberculosis with subsequent six months treatment; At age 02y: temporary insertion of subdural peritoneal shunts with following development of spasticity signs; At age 03y03m: spasticity (HP:0001257), truncal ataxia (HP:0001251), involuntary choreiform movements, developmental regression (HP:0002376) and delay: motor regression (no longer able to sit or stand with support), non-motor skills delayed by 0.5 years, dysarthria (HP:0001260); At age 03y06m: hypoglycemia (HP:0001943) during mild upper respirartory tract infection with following diagnosis of temporary adrenocortical insufficiency (for 2.5 years) (HP:0000846) and GA-1; At age 05y: improvement of neurologic condition (began to walk with support, improvement in speech), no intellectual deterioration, persistence of hypoglycemic episodes during fasting; At age 06y: neurologic condition static, no further hypoglycemic episodes; At age 07y06m: severely affected with choreoathetosis (HP:0001266), hyperkinesia (HP:0002487) and dysarthria, no intellectual deterioration; At age 28y: no further progression of previous state; CT(age 01y03m): bilateral subdural hydromas containing sterile xanthochromic fluid (no history of injury); CT(age 03y06m): increase of ventricular system in size, residual effusions over both temporal lobes, no signs of raised intracranial pressure GCDH GCDH 1 1 Katrin Hinderhofer
00001148 - PubMed: Busquets 2000 twin brother of 11073722-MP M no Portugal - - - - - GA1 slowly developing psychomotor delay, hypotonia, dystonic postures, lethargy, macrocephaly, dystonia, was able to walk without help GCDH GCDH 2 1 Katrin Hinderhofer
00001149 - PubMed: Busquets 2000 twin brother of 11073722-PP M no Portugal - - - - - GA1 slowly developing psychomotor delay, hypotonia, dystonic postures, lethargy, macrocephaly, dystonia, was able to walk without help GCDH GCDH 2 1 Katrin Hinderhofer
00001150 - PubMed: Busquets 2000, PubMed: Christensen 2004, PubMed: Schmiesing 2017 - - no Portugal - - - - - GA1 Severely affected: dystonia, unable to stand up, walk and speak GCDH GCDH 2 1 Katrin Hinderhofer
00001151 - PubMed: Busquets 2000 - - no Portugal - - - - - GA1 slowly developing psychomotor delay, hypotonia, dystonic postures, lethargy, macrocephaly, dystonia, was able to walk without help GCDH GCDH 2 1 Katrin Hinderhofer
00001152 - PubMed: Busquets 2000 - - no Portugal - - - - - GA1 slowly developing psychomotor delay, hypotonia, dystonic postures, lethargy, macrocephaly, minimal neurological signs, able to lead a normal life GCDH GCDH 1 1 Katrin Hinderhofer
00001153 - PubMed: Busquets 2000, PubMed: Schmiesing 2017 Information on GCDH activity: Schmiesing 2017 - no Italy - - - - - GA1 dystonia, unable to stand up, walk and speak GCDH GCDH 1 1 Katrin Hinderhofer
00001154 - PubMed: Busquets 2000 - - no Italy - - - - - GA1 dystonia, unable to stand up, walk and speak GCDH GCDH 2 1 Katrin Hinderhofer
00001155 - PubMed: Busquets 2000 - - no Italy - - - - - GA1 dystonia, unable to stand up, walk and speak GCDH GCDH 2 1 Katrin Hinderhofer
00001156 - PubMed: Bross 2012 No 2nd variant found after cDNA analysis; diagnosed by newborn screening M no (Denmark) white - - - - GA1 - GCDH GCDH 1 1 Katrin Hinderhofer
00001158 22231382-sister of index patient P PubMed: Bross 2012 2nd chromosome is normal / healthy sister of 22231382-P F no (Denmark) white - - - - GA1 No clinical signs of GA-1 GCDH GCDH 1 1 Katrin Hinderhofer
00001159 - PubMed: Bijarnia 2008 diagnosed by newborn screening F ? (Australia) - - - - - GA1 normal motor disability, normal cognitive disability, normal speech, maximum head circumference 90th-95th sentile at 5 months, MRI: dilated extra axial spaces GCDH GCDH 2 1 Katrin Hinderhofer
00001160 18683078-Case 2 PubMed: Bijarnia 2008,PubMed: Estrella 2014 This Patient is described by Estrella 2014 as well (24970580-GA1 Born 2000); Elevated glutarylcarnitine in newborn screening, but resample level below established cut-off --> diagnosis at birth missed M ? (Australia) - - - - - GA1 Progressive gross motor delay (HP:0002194), dystonia (HP:0001276), choreoathetosis (HP:0001266), wheelchair-dependent (disability unit at school), intellectual abilities normal, dysarthria (HP:0001260) (but can express well), head circumference normal (Maximum: 25th centile at age 12m) GCDH GCDH 2 1 Katrin Hinderhofer
00001161 - PubMed: Bijarnia 2008 - F ? (Australia) - - - - - GA1 neurological crisis, very hypotonic, wheelchair- dependent, responds with appropriate facial expresions, absent speech, severe intellectual disability, maximum head circumference 50th-75th centile at 8 months; MRI: diffuse abnormal signal bilateral basal ganglia GCDH GCDH 2 1 Katrin Hinderhofer
00001162 - PubMed: Bijarnia 2008 diagnosed by newborn screening M ? (Australia) - 00y13m - - - GA1 severe neurological crisis with 7 months, never recovered, severe dystonia, seizures, no recognition, no speech, maximum head circumference 95th centile at 4 months; MRI: severe changes, atrophy basal ganglia, diffuse white-matter changes GCDH GCDH 1 1 Katrin Hinderhofer
00001163 - PubMed: Bijarnia 2008 diagnosed by newborn screening F ? (Australia) - - - - - GA1 very mild upper limb dystonia; maximum head circumference >97th centile at 7 months GCDH CBR3, CBR3-AS1, GCDH 4 1 Katrin Hinderhofer
00001164 - PubMed: Lin 2002 brother of 12210585-Fam1(Pat.2) M ? Taiwan - - - - - GA1 macrocephaly, progressive dystonia, neurological deterioration with seizure attacks after an episode of bronchopneumonia; MRI: widening of subarachnoid space, frontal subdural effusion, hydrocephalus, cyst-like structure over sylvian fissure and periventricular hyperintensity over both frontal and occipital horns on T2 GCDH GCDH 1 1 Katrin Hinderhofer
00001165 - PubMed: Lin 2002 sister of 12210585-Fam1(Pat.1), prenatal analysis F ? Taiwan - - - - - GA1 ultrasound at 30 weeks gestation: dilatation of quadrigeminal cistern (QC) with suspicious macrocephaly, 3D-ultrasound at 30 weeks gestation: progressive dilatation of the QC, macrocephaly, fronto-temporal atrophy and enlarged sylvian fissures postnatal MRI studie: macrocepahly, fronto-temporal atrophy, enlarged sylvian fissure and dilated QC GCDH GCDH 1 1 Katrin Hinderhofer
00001166 - PubMed: Lin 2002 - M no Taiwan - - - - - GA1 progressive ventriculomegaly; MRI: prominent supratentorial brain atrophy with widening of bilateral sylvian fissures and delayed myelination GCDH GCDH 2 1 Katrin Hinderhofer
00001167 14707522-Case report PubMed: Mühlhausen 2003, PubMed: Harting 2009, PubMed: Boy 2018 This patient is described later again by harting 2009 (Pat 28) and Boy 2018_2 (Pat 15); Diagnosed by selective screening following acute encephalopathic crisis F yes Turkey - - - - - GA1 Outcome thereafter: persistence of dystonia and dyskinesia; Disease course: Severe disability; MRI (T2-weighted): bilateral hyperintense lesions of caudate and lentcular nucleus GCDH GCDH 1 1 Katrin Hinderhofer
00001168 - PubMed: Zafeiriou 2000 brother of 11508549-Pat.2 M ? Greece - - - - - GA1 MRI:temporal hypoplasia with high-signal alterations in both basal ganglia and centrum semiovale; macrocephaly, mental retardation GCDH GCDH 1 1 Katrin Hinderhofer
00001169 - PubMed: Zafeiriou 2000 sister of 11508549-Pat.1 F ? Greece - - - - - GA1 neurological normal, no symptoms; MRI: normal findings GCDH GCDH 1 1 Katrin Hinderhofer
00001172 - PubMed: Zafeiriou 2000 twin of 11508549-Pat.3 - ? Greece - - - - - GA1 mild pyramidal tract signs; MRI: high-signal alterations in periventricular white matter and centrum semiovale GCDH GCDH 2 1 Katrin Hinderhofer
00001173 - PubMed: Zafeiriou 2000 twin of 11508549-Pat.4 - ? Greece - - - - - GA1 mild pyramidal tract signs; MRI: high-signal alterations in periventricular white matter and centrum semiovale GCDH CEP164, GCDH, HMCN1 5 1 Katrin Hinderhofer
00001174 - PubMed: Treacy 2003 - M no Ireland - - - - - GA1 marked dystonia and irritability; MRI: normal white matter, acute changes in the basal ganglia, caudate and putamen with minimal widening of the sulci and Sylvian fissure and mild dilatation of the lateral ventricles GCDH GCDH 1 1 Katrin Hinderhofer
00001175 9266361-Fam.1, index case PubMed: Christensen 1997 This patient (and siblings) were previously described by Dorland 1990 (publication could not be found); Family: Two older affected brothers (9266361-Fam.1, 1st & 2nd older brother) F ? Netherlands - - - - - GA1 severely dystonic and restless after an upper respiratory infection; after this episode: loss of most of her motor skills GCDH GCDH 2 1 Katrin Hinderhofer
00001179 - PubMed: Couce Pico 2008 - M ? (Spain) - - - - - GA1 MRI: Enlargement of the frontotemporal subarachnoid space with opening of the Sylvian fissures, selective atrophy in this region, strong signal in the basal ganglia, bilateral cerebral demyelination GCDH GCDH 1 1 Katrin Hinderhofer
00001180 18775269-Pat.5 PubMed: Couce Pico 2008, PubMed: Couce 2013 This patient is described later again by Couce 2013 (pat 9); Diagnosed due to clinical symptoms M no (Spain) white - - - - GA1 Medical history: two previous episodes of decompensation (at ages 01y01m & 04y); Disease course: At age 13y10m: severe dystonic spastic tetraparesis, seizures; At age 18y: severe disability, wheelchair-dependent, cognitive function PDI/IQ <60, absent speech; MRI: enlarged frontotemporal subarachnoid space with opening of Sylvian fissures in relation to selective atrophy in this region, bilateral cerebral demyelination, diffuse cerebral atropy GCDH GCDH 2 1 Katrin Hinderhofer
00001183 18775269-Pat.4 PubMed: Couce Pico 2008, PubMed: Couce 2013 This patient is described later again by Couce 2013 (pat 8); Diagnosed due to clinical symptoms M no (Spain) white - - - - GA1 Disease course: At age 11y: isolated upper extremity dystonia, speech and cognition normal; MRI: enlarged frontotemporal subarachnoid space with opening of Sylvian fissures and atrophy in this region, strong signal in basal ganglia GCDH GCDH 1 1 Katrin Hinderhofer
00001184 - PubMed: Ikeda 1998, PubMed: Mushimoto 2010 This patient is described later again by Mushimoto 2010 (Case 12); Family: one elder healthy sister M no Japan - - - - - GA1 Outcome thereafter: spasticity (HP:0001257), involuntary, grimacing, dystonic and choreoathetotic movements (HP:0004305, HP:0000273, HP:0001266); Disease course: At age 14y06m: severely affected (bedridden, tube feeding required), seizures, dystonia (HP:0001276); CT: marked atrophy of the frontal and temporal lobes and ventriculomegaly GCDH GCDH 1 1 Katrin Hinderhofer
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