Phenotypes for disease #00114 (GA1 (glutaricaciduria, type 1 (GA-1)), OMIM:231670)

832 entries on 9 pages. Showing entries 1 - 100.
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0000000367 00y04m - Familial, autosomal recessive - - - Acute encephalopathic crisis with hypotonia (HP:0008947), dystonia (HP:0001276) and quadriparesis (HP:0002273) Disease course: quadriplegic dystonia, anarthria (HP:0002425); CT: fronto-temporal atrophy, loss of caudate nuclei - GA(urine): elevated; marked serum carnitine deficiency Residual activity: 0% (fibroblasts) Katrin Hinderhofer 00000935
0000000368 - - Familial, autosomal recessive - - - - 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 - GA(urine): excessively increased; carnitine(serum): marked deficiency - Katrin Hinderhofer 00000936
0000000369 00y08m - Familial, autosomal recessive - - - Acute encephalopathic crisis (HP:0006846) with hypotonia (HP:0008947), dystonia (HP:0001276) and quadriparesis (HP:0002273) Disease course: At age 01y03m: marked hypotonia and quadriplegia; CT: frontotemporal atrophy, loss of caudate nuclei - GA(urine) & 3-OH-GA(urine): excessively increased; marked serum carnitine deficiency - Katrin Hinderhofer 00000937
0000000370 01y06m - Familial, autosomal recessive - - - Acute encephalopathic crisis (HP:0006846) with convulsions (HP:0001250) and coma Disease course: At age 04y: hypotonia (HP:0001252), muscle weakness (HP:0003690), speech delay (HP:0000750); CT: frontotemporal atrophy - GA(urine) & 3-OH-GA(urine): excessively increased Residual activity: undetectable (fibroblasts) Katrin Hinderhofer 00000938
0000000371 00y10m - Familial, autosomal recessive - - - Acute encephalopathic crisis with hypotonia (HP:0008947), dystonia (HP:0001276) and quadriparesis (HP:0002273) Disease course: At age 03y: dystonic posturing (HP:0002533); CT: frontotemporal atrophy, loss of caudate nuclei - GA(urine) & 3-OH-GA(urine): excessively increased; carnitine(serum): marked deficiency - Katrin Hinderhofer 00000939
0000000372 - - Familial, autosomal recessive 07y - - - Dystonic quadriparesis (HP:0002273) - GA(urine) & 3-OH-GA(urine): excessively increased; carnitine(serum): marked deficiency - Katrin Hinderhofer 00000940
0000000373 00y10m - Familial, autosomal recessive - - - Subacute hemiparesis (HP:0001269) 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 - GA(urine) & 3-OH-GA(urine): excessively increased; carnitine(serum): marked deficiency Residual activity: undetectable (fibroblasts) Katrin Hinderhofer 00000941
0000000374 00y03m - Familial, autosomal recessive - - - Enlarged head circumference 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 - GA(urine) & 3-OH-GA(urine): excessively increased; carnitine(serum): marked deficiency Residual activity: undetectable (fibroblasts) Katrin Hinderhofer 00000942
0000000375 - - Familial, autosomal recessive 20y - - - Asymptomatic; CT: fronto-temporal atrophy - GA(urine) & 3-OH-GA(urine): excessively increased; carnitine(serum): marked deficiency Residual activity: 0% (fibroblasts) Katrin Hinderhofer 00000943
0000000376 - - Familial, autosomal recessive - - - - - - - - Katrin Hinderhofer 00000944
0000000377 - - Familial, autosomal recessive 10y - - - Asymptomatic; CT: fronto-temporal atrophy - GA(urine) & 3-OH-GA(urine): excessively increased; carnitine(serum): marked deficiency Residual activity: 0% (fibroblasts) Katrin Hinderhofer 00000945
0000000378 - - Familial, autosomal recessive - - - - Asymptomatic; CT: fronto-temporal atrophy - GA(urine) & 3-OH-GA(urine): excessively increased; carnitine(serum): marked deficiency - Katrin Hinderhofer 00000946
0000000379 - - Familial, autosomal recessive - - - - - - - - Katrin Hinderhofer 00000947
0000000380 - - Familial, autosomal recessive - - - - - - - - Katrin Hinderhofer 00000948
0000000381 - - Familial, autosomal recessive - - - - - - - - Katrin Hinderhofer 00000949
0000000382 - - Familial, autosomal recessive - - - - At age 09y: Motor dyspraxia, learning difficulties; CT: frontotemporal atrophy - GA(urine) & 3-OH-GA(urine): excessively increased; carnitine(serum): marked deficiency - Katrin Hinderhofer 00000950
0000000383 - - Familial, autosomal recessive 01y - - - Severe retardation and quadriplegia (HP:0002445); CT: frontotemporal atrophy, loss of caudate nuclei, lissencephaly - GA(urine) & 3-OH-GA(urine): excessively increased; carnitine(serum): marked deficiency - Katrin Hinderhofer 00000951
0000000384 - - Familial, autosomal recessive - - - - - - - - Katrin Hinderhofer 00000952
0000000385 01y - Familial, autosomal recessive - - - Acute encephalopathic crisis (HP:0006846) with dystonia (HP:0001276) Disease course: At age 03y: normal psychomotor development - GA(urine) & 3-OH-GA(urine): excessively increased; carnitine(serum): marked deficiency undetectable (fibroblasts) Katrin Hinderhofer 00000953
0000000386 - - Familial, autosomal recessive - - - - - - - - Katrin Hinderhofer 00000954
0000000387 - - Familial, autosomal recessive - - - - - - - - Katrin Hinderhofer 00000955
0000000388 - - Familial, autosomal recessive - - - - - - - - Katrin Hinderhofer 00000956
0000000493 - - Familial, autosomal recessive - - - - see paper; ... - - - Katrin Hinderhofer 00001061
0000000496 - - Familial, autosomal recessive - - 00y07m - 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) - GA(urine): 8548 µmol/mmol creatinine; 3-OH-GA(urine): 79.6µmol/mmol creatinine <10pmol.h⁻¹mg⁻¹ protein (cultured fibroblasts) Katrin Hinderhofer 00001064
0000000508 - - Familial, autosomal recessive 02y - - - 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 - - - Katrin Hinderhofer 00001076
0000000509 - - Familial, autosomal recessive - - - - - - - - Katrin Hinderhofer 00001077
0000000510 - - Familial, autosomal recessive - - - - - - - - Katrin Hinderhofer 00001078
0000000511 - - Familial, autosomal recessive - - - - 14m-asymptomatic - - - Katrin Hinderhofer 00001079
0000000513 - - Familial, autosomal recessive - - - - - - - - Katrin Hinderhofer 00001081
0000000514 - - Familial, autosomal recessive - - - - - - - - Katrin Hinderhofer 00001082
0000000515 00y00m00d - Familial, autosomal recessive 00y00m00d - - - twin 2 - GA (amniotic fluid): 50.6 µmol/l (c: 0.4-1.2) - Katrin Hinderhofer 00001083
0000000516 00y00m00d - Familial, autosomal recessive 00y00m00d - - - twin 1 - GA (amniotic fluid): 39.6 µmol/l (c: 0.4-1.2) - Katrin Hinderhofer 00001084
0000000517 - - Familial, autosomal recessive - - - - - - - - Katrin Hinderhofer 00001085
0000000518 00y07m Acute neurologic dysfunction associated with destructive lesion of basal ganglia Familial, autosomal recessive 10y - - Acute encephalopathy 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 - GA(urine): 4mmol/mol creatinine; 3-OH-GA(urine): 43mmol/mol creatinine; carnitine(plasma): normal GCDH activity (fibroblasts): 9% of controls Katrin Hinderhofer 00001086
0000000519 - - Familial, autosomal recessive - - - - - - - - Katrin Hinderhofer 00001087
0000000520 00y00m00d - Familial, autosomal recessive 00y00m00d - - - ?, was unborn - - - Katrin Hinderhofer 00001088
0000000521 - - Familial, autosomal recessive - - - - - - - - Katrin Hinderhofer 00001089
0000000522 - - Familial, autosomal recessive - - - - - - - - Katrin Hinderhofer 00001090
0000000523 - - Familial, autosomal recessive - - - - - - - - Katrin Hinderhofer 00001091
0000000524 - - Familial, autosomal recessive - - - - Symptoms: extrapyramidal signs, macrocephaly; Neuroimaging: radiological changes in the caudate and putamen - GA(urine), 3-OH-GA(urine) & glutaconic acids(urine): excessive amounts - Katrin Hinderhofer 00001092
0000000525 - - Familial, autosomal recessive - - - - - - - - Katrin Hinderhofer 00001093
0000000526 - - Familial, autosomal recessive - - - - - - - - Katrin Hinderhofer 00001094
0000000527 - - Familial, autosomal recessive - - - - - - - - Katrin Hinderhofer 00001095
0000000528 - - Familial, autosomal recessive - - - - Symptoms: extrapyramidal signs, macrocephaly; Neuroimaging: radiological changes in the caudate and putamen - GA(urine), 3-OH-GA(urine) & glutaconic acids(urine): excessive amounts GCDH activity: 1% of controls Katrin Hinderhofer 00001096
0000000529 - - Familial, autosomal recessive - - - - - - - GCDH activity: 56% of controls Katrin Hinderhofer 00001097
0000000530 - - Familial, autosomal recessive - - - - - - - GCDH activity: 41% of controls Katrin Hinderhofer 00001098
0000000531 - - Familial, autosomal recessive - - - - Symptoms: extrapyramidal signs, macrocephaly; Neuroimaging: radiological changes in the caudate and putamen - GA(urine), 3-OH-GA(urine) & glutaconic acids(urine): excessive amounts - Katrin Hinderhofer 00001099
0000000532 - - Familial, autosomal recessive - - - - - - - - Katrin Hinderhofer 00001100
0000000533 - - Familial, autosomal recessive - - - - - - - - Katrin Hinderhofer 00001101
0000000534 - - Familial, autosomal recessive - - - - Symptoms: extrapyramidal signs, macrocephaly; Neuroimaging: radiological changes in the caudate and putamen - GA(urine), 3-OH-GA(urine) & glutaconic acids(urine): excessive amounts - Katrin Hinderhofer 00001102
0000000535 - - Familial, autosomal recessive - - - - - - - - Katrin Hinderhofer 00001103
0000000536 - - Familial, autosomal recessive - - - - - - - - Katrin Hinderhofer 00001104
0000000537 - - Familial, autosomal recessive - - - - Symptoms: extrapyramidal signs, macrocephaly; Neuroimaging: radiological changes in the caudate and putamen - GA(urine), 3-OH-GA(urine) & glutaconic acids(urine): excessive amounts - Katrin Hinderhofer 00001105
0000000538 - - Familial, autosomal recessive - - - - Symptoms: extrapyramidal signs, macrocephaly; Neuroimaging: radiological changes in the caudate and putamen - GA(urine), 3-OH-GA(urine) & glutaconic acids(urine): excessive amounts - Katrin Hinderhofer 00001106
0000000539 - - Familial, autosomal recessive - - - - - - - - Katrin Hinderhofer 00001107
0000000540 - - Familial, autosomal recessive - - - - - - - - Katrin Hinderhofer 00001108
0000000541 - - Familial, autosomal recessive - - 00y00m07d - 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 - High excretor GCDH activity: 1% of controls Katrin Hinderhofer 00001109
0000000542 - - Familial, autosomal recessive - - 00y00m17d - 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 - GA(urine): 4509mmol/mol creatinine; 3-OH-GA(urine): 128mmol/mol creatinine Residual activity: 1% Katrin Hinderhofer 00001110
0000000543 - - Familial, autosomal recessive - - - - 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 - GA(urine): >2000mmol/mol creatinine; 3-OH-GA(urine): 50mmol/mol creatinine Residual activity: 0% Katrin Hinderhofer 00001111
0000000544 - - Familial, autosomal recessive 08y06m - - - 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 - GA(urine):2100 mmol/mol creatinine; 3-OH-GA:110 mmol/mol creatinine; free carnitine(plasma): 3 µmol/l Residual activity: 1% Katrin Hinderhofer 00001112
0000000545 - - Familial, autosomal recessive - - 01y06m - severe disability, classic disease course - High excretor - Katrin Hinderhofer 00001113
0000000546 - - Familial, autosomal recessive - - 01y03m - classic disease course, moderate disability - High excretor - Katrin Hinderhofer 00001114
0000000547 - - Familial, autosomal recessive 01y - - - classic disease course, moderate disability - - - Katrin Hinderhofer 00001115
0000000548 - - Familial, autosomal recessive 00y06m - - - classic disease course, severe disability - High excretor GCDH activity: 0% of controls Katrin Hinderhofer 00001116
0000000549 - - Familial, autosomal recessive 01y - - - classic disease course, very severe disability - High excretor GCDH activity: 0% of controls Katrin Hinderhofer 00001117
0000000550 - - Familial, autosomal recessive - - 00y12m - classic disease course, moderate disability - High excretor GCDH activity: 0% of controls Katrin Hinderhofer 00001118
0000000551 03y01m - Familial, autosomal recessive - - 03y01m Acute onset: Acute encephalopathic crisis (HP:0006846) Severe movement disorder - High excretor GCDH activity: 0% of controls Katrin Hinderhofer 00001119
0000000552 - - Familial, autosomal recessive - - 00y10m - classic disease course, mild disability - High excretor GCDH activity: 0% of controls Katrin Hinderhofer 00001120
0000000553 - - Familial, autosomal recessive - - 03y - classic disease course, very severe disability - High excretor GCDH activity: 0% of controls Katrin Hinderhofer 00001121
0000000554 - - Familial, autosomal recessive 14y07m - - - 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) - GA(urine) & 3-OH-GA(urine): strongly elevated (no quantification) <1% Katrin Hinderhofer 00001122
0000000555 35y Psychiatric disease and later: assumed leukodystrophy Familial, autosomal recessive - - 66y - 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 - GA(urine):1,600mmol/mol creatinine; 3-OH-GA(urine): 109mmol/mol creatinine GCDH activity: <1% Katrin Hinderhofer 00001123
0000000556 - - Familial, autosomal recessive - - 02y - 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 - GA(urine): 2670mmol/mol creatinine; 3-OH-GA(urine): elevated (no quantification) Residual activity: 1% Katrin Hinderhofer 00001124
0000000557 - - Familial, autosomal recessive - - 00y00m22d - asympt. disease course, none disability - High excretor GCDH activity: 0% of controls Katrin Hinderhofer 00001125
0000000558 - - Familial, autosomal recessive - - 00y01m Progressive macrocephaly (2.4cm above 97th percentile) (HP:0004481), frontal bossing (HP:0002007), intermittently occuring sun-setting eyes (HP:0012470) 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 - GA(urine):10,000-14,000 mmol/mol creatinine; 3-OH-GA(urine):2690 mmol/mol creatinine; GA(plasma):22.3 µmol/L; total L-carnitine(radioenzymatic assay):12.5 µmol/L; free carnitine:9.2 µmol/L GCDH activity: 1% of controls Katrin Hinderhofer 00001126
0000000559 - - Familial, autosomal recessive - - 02y04m - asympt. disease course, none disability - High excretor GCDH activity: 0% of controls Katrin Hinderhofer 00001127
0000000560 00y09m - Familial, autosomal recessive 15y03m15d - 00y00m07d - 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 - Newborn screening: glutarylcarnitine:2.77µmol/l, urinary organic acid analysis: high excretor Residual activity: 1% Katrin Hinderhofer 00001128
0000000561 - - Familial, autosomal recessive - - 00y00m07d - classic disease course, two encephalopathic crisis at ages 01m & 05m, mild disability - High excretor GCDH activity: 0% of controls Katrin Hinderhofer 00001129
0000000562 - - Familial, autosomal recessive 00y00m15d - - - asympt. disease course, none disability - High excretor GCDH activity: 0% of controls Katrin Hinderhofer 00001130
0000000563 - - Familial, autosomal recessive 13y - 00y00m04d - Asymptomatic disease course, no movement disorder at last visit - High excretor GCDH activity: 0% of controls Katrin Hinderhofer 00001131
0000000564 00y05m - Familial, autosomal recessive - - 00y00m07d Insidious onset Disease course: first asymptomatic, then development of mild movement disorder - High excretor - Katrin Hinderhofer 00001132
0000000565 - - Familial, autosomal recessive - - 00y00m07d - asympt. disease course, none disability - High excretor - Katrin Hinderhofer 00001133
0000000566 - - Familial, autosomal recessive 00y00m07d - - - Symptoms: Asymptomatic - Low excretor Residual activity: 25% control (fibroblasts) Katrin Hinderhofer 00001134
0000000567 - - Familial, autosomal recessive - - 00y00m07d - asympt. disease course, none disability - High excretor GCDH activity: 0% of controls Katrin Hinderhofer 00001135
0000000568 - - Familial, autosomal recessive - - 00y00m07d - asympt. disease course, none disability - High excretor GCDH activity: 1% of controls Katrin Hinderhofer 00001136
0000000569 - - Familial, autosomal recessive 00y00m07d - - - Symptoms: Asymptomatic - Low excretor Residual activity: 5% (fibroblasts) Katrin Hinderhofer 00001137
0000000570 - - Familial, autosomal recessive - - 00y00m15d - insidious disease course, mild disability - High excretor GCDH activity: 0% of controls Katrin Hinderhofer 00001138
0000000571 - - Familial, autosomal recessive 00y10m - - - developmental delay, large head size, MRI: large amounts of bilateral subdural fluid collection, cerebral atrophy, high signal intensity in both basal ganglia - 3-OH-GA(urine): 67.6 mmol/mol creatinine (c: <4.2); GA(urine): 7360.9 mmol/mol creatinine (c: <5.3)) - Katrin Hinderhofer 00001139
0000000572 - - Familial, autosomal recessive - - - - - - - - Katrin Hinderhofer 00001140
0000000573 - - Familial, autosomal recessive - - - - - - - - Katrin Hinderhofer 00001141
0000000574 - - Familial, autosomal recessive 03y01m - - - developmental delay, large head size, hearing impairment, loss of motor skills, MRI: asymmetric subdural fluid collection, suggesting hemorrhage with a mild mass effect - 3-OH-GA(urine): 12.1 mmol/mol creatinine (c: <4.2); GA(urine): 73.75 mmol/mol creatinine (c: <5.3)) - Katrin Hinderhofer 00001142
0000000575 00y09m Athetoid cerebral palsy Familial, autosomal recessive 06y05m - - Hypotonia, delayed motor development, fine motor development normal, Bailey Scale Mental Development Index: 107, (in contrary to other family memebers: pigment absent from hair, blue irides) 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 - 3-OH-GA (urine): 106 mmol/mol creatinine (c: 0-6); GA (urine): 27 mmol/mol creatinine (c: 0-5); carnitine (blood): 11.7 µmol/l (c: 21-53); carnitine (urine): 0.5 mmol/mol creatinine (c: 0-15) - Katrin Hinderhofer 00001143
0000000576 - - Familial, autosomal recessive 01y05m - - - 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) - 3-OH-GA (urine): 53 mmol/mol creatinine (c: 0-6); GA (urine): 12 mmol/mol creatinine (c: 0-5) GCDH activity (fibroblasts): 2% of controls Katrin Hinderhofer 00001144
0000000577 00y06m - Familial, autosomal recessive 00y06m - - - developmental regression with poor head control - glutarylcarnitine(urine): 13.7 mmol/mol creatinine; 3-OH-GA(urine): 669 mmol/mol creatinine; GA(urine): 9097 mmol/mol creatinine; GA(blood): 46 µmol/l GCDH activity (fibroblasts): 3.7% of controls Katrin Hinderhofer 00001145
0000000578 00y01m - Familial, autosomal recessive 05y06m - - - hypotonic, neurologically normal - glutarylcarnitine(urine): 69.0 mmol/mol creatinine; 3-OH-GA(urine): 245 mmol/mol creatinine; GA(urine): 834 mmol/mol creatinine GCDH activity (fibroblasts): 21.8% of controls Katrin Hinderhofer 00001146
0000000579 01y - Familial, autosomal recessive 03y06m - - Recurrent irritability (HP:0000737) and vomiting (HP:0002013), head circumference >90th percentile 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 - glutarylcarnitine(urine): 42.8 mmol/mol creatinine; 3-OH-GA(urine): 172 mmol/mol creatinine; GA(urine): 2280 mmol/mol creatinine GCDH activity (fibroblasts): 1.3% of controls Katrin Hinderhofer 00001147
0000000580 00y00m00d - Familial, autosomal recessive - - - - slowly developing psychomotor delay, hypotonia, dystonic postures, lethargy, macrocephaly, dystonia, was able to walk without help - 3-OH-GA(urine): 282 mmol/mol creatinine (c: 2-14); GA(urine): 11584 mmol/mol creatinine (c: 2-10) - Katrin Hinderhofer 00001148
0000000581 00y00m00d - Familial, autosomal recessive - - - - slowly developing psychomotor delay, hypotonia, dystonic postures, lethargy, macrocephaly, dystonia, was able to walk without help - 3-OH-GA(urine): 215 mmol/mol creatinine (c: 2-14); GA(urine): 12271 mmol/mol creatinine (c: 2-10) - Katrin Hinderhofer 00001149
0000000582 00y10m - Familial, autosomal recessive - - - - Severely affected: dystonia, unable to stand up, walk and speak - 3-OH-GA(urine): 107 mmol/mol creatinine (c: 2-14); GA(urine): 39 mmol/mol creatinine (c: 2-10) 1-5% of control (fibroblasts) Katrin Hinderhofer 00001150
0000000583 02y - Familial, autosomal recessive - - - - slowly developing psychomotor delay, hypotonia, dystonic postures, lethargy, macrocephaly, dystonia, was able to walk without help - 3-OH-GA(urine): 283 mmol/mol creatinine (c: 2-14); GA(urine): 11526 mmol/mol creatinine (c: 2-10) - Katrin Hinderhofer 00001151
0000000584 01y - Familial, autosomal recessive - - - - slowly developing psychomotor delay, hypotonia, dystonic postures, lethargy, macrocephaly, minimal neurological signs, able to lead a normal life - 3-OH-GA(urine): 149 mmol/mol creatinine (c: 2-14); GA(urine):5488 mmol/mol creatinine (c: 2-10) - Katrin Hinderhofer 00001152
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