All individuals with variants in gene HADHB

75 entries on 1 page. Showing entries 1 - 75.
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00025019 - - - F no China - 08y05m - - L-carnitine，adjusting the diet MTPD lower limb weakness 1 1 Xiaona Fu
00080972 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - MTPD Trifunctional protein deficiency (OMIM:609015) 1 1 Daniel Trujillano
00292676 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00427816 PatG PubMed: Veeramah 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States - - - - - EE birth at term, Apgar 4; infantile spasms, nonresponsive to ACTH, controlled with vigabatrin, 3y6m-complex partial seizures, 14y-recurrence of clusters of flexor spasms, now refractory; EEG 6m-hypsarrhythmia (resolved on vigabatrin), subsequently bihemispheric slowing, multifocal sharp waves; epileptic encephalopathy; mild motor delay, moderate to severe speech-language delay; 1st-grade level; movements slow with poor coordination; emotional lability, compulsive behaviors 1 1 Johan den Dunnen
00457451 ?;Pat1 PubMed: Kamijo 1994, PubMed: Ushikubo 1996 - - - Japan - - - - - MTPD see paper; ... 2 1 Johan den Dunnen
00457453 Pat3;Pat7;Pat1 PubMed: Ushikubo 1996, PubMed: Spiekerkoetter 2003, PubMed: Spiekerkoetter 2004 - F - United States white - - - - MTPD 4m-hypoglycemia, hyperammonemia, mild liver dysfunction, 3 hydroxydicarboxylic aciduria; no cardiomyopathy, skeletal myopathy, neuropathy 2 1 Johan den Dunnen
00457454 Pat2;Pat5;Pat14 PubMed: Orii 1997, PubMed: Purevsuren 2009, PubMed: Bo 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Japan - - - - - MTPD see paper; ..., myopathic, muscle pain, weakness; elevated CK, myoglobinuria; normal development 1 1 Johan den Dunnen
00457455 Pat1;Pat4;Pat9 PubMed: Orii 1997, PubMed: Purevsuren 2009, PubMed: Bo 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Japan - - - - - MTPD see paper; ..., respiratory failure, hypotonia; liver dysfunction; delayed development 3 1 Johan den Dunnen
00457456 patient;Pat1;Pat4 PubMed: Purevsuren 2008, PubMed: Purevsuren 2009, PubMed: Bo 2017 - F - Japan - 00y00m08d - - - MTPD see paper; ..., 8d-deceased; cardiomyopathy, respiratory distress, hypoglycemia, hyperammonemia, metabolic acidosis, liver dysfunction 2 1 Johan den Dunnen
00457457 Pat2;Pat7 PubMed: Purevsuren 2009, PubMed: Bo 2017 - M yes Japan - 00y03m - - - MTPD see paper; ..., 3m-deceased; cardiomyopathy, respiratory distress; hypoglycemia, hyperammonemia 1 1 Johan den Dunnen
00457458 Pat3;Pat8 PubMed: Purevsuren 2009, PubMed: Bo 2017 - F - Japan - - - - - MTPD see paper; ..., hepatic, coma, convulsion, developmental delay; lactic acidemia, liver dysfunction; developmental delay 2 1 Johan den Dunnen
00457459 FamPatIV1;Pat10 PubMed: Naiki 2014, PubMed: Bo 2017 2-generation family, affected dizygotic twins, unaffected heterozygous carrier parents/relatives F - Japan - - - - - MTPD see paper; ..., 35d-hypoparathyroidism; 2y-rhabdomyolysis; 3y-peripheral polyneuropathy; no hypotonia; no liver dysfunction 1 2 Johan den Dunnen
00457460 FamPatIV2;Pat11 PubMed: Naiki 2014, PubMed: Bo 2017 twin brother M - Japan - - - - - MTPD see paper; ..., 4m-hypoparathyroidism; 3y-rhabdomyolysis; 3y-peripheral polyneuropathy; no hypotonia; no liver dysfunction 1 1 Johan den Dunnen
00457461 - PubMed: Labarthe 2006 - F - France - - - - - MTPD see paper; ..., admitted for lethargy, hypotonia, hypomobility due to muscular pains, areflexia; mild hypoglycaemia; peripheral neuropathy, decreased sensitive nerve conduction velocity; 4m-hypoparathyroidism; 1y3m-rhabdomyolysis; 4m-peripheral polyneuropathy; hypotonia; liver dysfunction; hypoparathyroidism 1 1 Johan den Dunnen
00457462 patient PubMed: Park 2009 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Korea - - - - - MTPD see paper; ..., 36w-birth, weight 2600 g (25-50th), length 48.5 cm (50-75th ), OFC 33 cm (50th); 1d-chest retractions with grunting sound, severe metabolic acidosis; hypotension, oliguric renal failure 2 1 Johan den Dunnen
00457463 FamPatII1 PubMed: Hong 2013 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F - Korea - - - - - CMT see paper; ..., 6y-distal limb weakness, gait disability; 15y-uses walker; 23y-operation bilateral feet due to walking difficulties; 37y-muscle weakness, atrophies of bilateral distal muscles upper/lower limbs, loss of sensory/tendon reflexes 2 2 Johan den Dunnen
00457464 FamPatII2 PubMed: Hong 2013 proband M - Korea - - - - - CMT see paper; ..., 5y-lower leg weakness,bilateral foot drop, gait disturbance; 12y-uses walker; 34y-muscle weakness/atrophy began, distal part lower limbs prominently involved, toe/heel gait defects 2 1 Johan den Dunnen
00457504 patient PubMed: Li 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F - China - - - - - MTPD see paper; ..., early milestones slightly delayed; 14m-recurrent afebrile convulsion, limbs/trunk hypotonia 2 1 Johan den Dunnen
00457550 Pat46 PubMed: Boutron 2011 - - - France - - - - - MTPD severe neonatal form; died 1 1 Johan den Dunnen
00457551 Pat47 PubMed: Boutron 2011 - - - France - - - - - MTPD severe neonatal form; died 1 1 Johan den Dunnen
00457552 Pat48 PubMed: Boutron 2011 - - - France - - - - - MTPD severe neonatal form; abnormalities third trimester pregnancy ; died 1 1 Johan den Dunnen
00457553 Pat49 PubMed: Boutron 2011 - - - France - - - - - MTPD severe neonatal form; died 1 1 Johan den Dunnen
00457554 Pat50 PubMed: Boutron 2011 - - - France - - - - - MTPD severe neonatal form; died 1 1 Johan den Dunnen
00457555 Pat51 PubMed: Boutron 2011 - - - France - - - - - MTPD infantile hepatic form; alive 1 1 Johan den Dunnen
00457556 Pat52 PubMed: Boutron 2011 - - - France - - - - - MTPD severe neonatal form; died 1 1 Johan den Dunnen
00457572 Pat1 PubMed: Kang 2018 - - - Korea - - - - - ? recurrent rhabdomyolysis, sensorimotor polyneuropathy, difficulty running and climbing stairs 2 1 Johan den Dunnen
00457573 Pat2 PubMed: Kang 2018 - - - Korea - - - - - ? recurrent rhabdomyolysis, sensorimotor polyneuropathy, difficulty running, positive Gowers’ sign 2 1 Johan den Dunnen
00457574 Pat3 PubMed: Kang 2018 - - - Korea - - - - - ? recurrent rhabdomyolysis, sensorimotor polyneuropathy, difficulty running 2 1 Johan den Dunnen
00457575 Pat4 PubMed: Kang 2018 - - - Korea - - - - - ? recurrent rhabdomyolysis, sensorimotor polyneuropathy, walk with assistance 2 1 Johan den Dunnen
00457577 Pat6 PubMed: Kang 2018 - - - Korea - 9d - - - ? 9d-deceased (cardiomyopathy); 5d-tachypnea, metabolic acidosis 2 1 Johan den Dunnen
00457580 Pat1 PubMed: Spiekerkoetter 2003 patient F - Turkey - 8d - - - MTPD 8d-deceased; hypoglycemia, cardiomyopathy, no skeletal myopathy, no neuropathy 1 1 Johan den Dunnen
00457581 Pat2 PubMed: Spiekerkoetter 2003 patient M - United States white 12d - - - MTPD 12d-deceased; hypoglycemia, cardiomyopathy, no skeletal myopathy, no neuropathy 1 1 Johan den Dunnen
00457582 Pat3 PubMed: Spiekerkoetter 2003 patient F - United States white 9d - - - MTPD 9d-deceased; hypoglycemia, cardiomyopathy, no skeletal myopathy, no neuropathy 1 1 Johan den Dunnen
00457583 Pat4 PubMed: Spiekerkoetter 2003 patient M - United States white 14d - - - MTPD 14d-deceased; hypoglycemia, cardiomyopathy, no skeletal myopathy, no neuropathy 1 1 Johan den Dunnen
00457584 Pat5 PubMed: Spiekerkoetter 2003 patient M - United States white - - - - MTPD hypoglycemia, lethargy, no skeletal myopathy, no neuropathy 2 1 Johan den Dunnen
00457585 Pat6 PubMed: Spiekerkoetter 2003 patient M - United States white - - - - MTPD hypoglycemia, lethargy, no skeletal myopathy, no neuropathy 2 1 Johan den Dunnen
00457586 FamPat8;Pat2 PubMed: Spiekerkoetter 2003, PubMed: Spiekerkoetter 2004 family, 2 affected brothers M - United States Hispanic - - - - MTPD no hypoglycemia, no cardiomyopathy, skeletal myopathy, peripheral neuropathy 2 2 Johan den Dunnen
00457587 FamPat9 PubMed: Spiekerkoetter 2003 brother M - United States Hispanic - - - - MTPD no hypoglycemia, no cardiomyopathy, skeletal myopathy, peripheral neuropathy 2 1 Johan den Dunnen
00457588 FamPat10;Pat3 PubMed: Spiekerkoetter 2003, PubMed: Spiekerkoetter 2004 family, 2 affected brothers M - Israel - - - - - MTPD no hypoglycemia, no cardiomyopathy, skeletal myopathy, peripheral neuropathy 2 2 Johan den Dunnen
00457589 FamPat11;Pat4 PubMed: Spiekerkoetter 2003, PubMed: Spiekerkoetter 2004 brother M - Israel - - - - - MTPD no hypoglycemia, no cardiomyopathy, skeletal myopathy, peripheral neuropathy 2 1 Johan den Dunnen
00457590 Pat12;Pat5 PubMed: Spiekerkoetter 2003, PubMed: Spiekerkoetter 2004 patient M - United States white - - - - MTPD no hypoglycemia, no cardiomyopathy, skeletal myopathy, peripheral neuropathy (axonal/myelin degeneration) 1 1 Johan den Dunnen
00457591 Pat13;Pat6 PubMed: Spiekerkoetter 2003, PubMed: Spiekerkoetter 2004 patient M - United States white - - - - MTPD no hypoglycemia, cardiomyopathy during metabolic decompensation, skeletal myopathy, peripheral neuropathy (axonal/myelin degeneration) 2 1 Johan den Dunnen
00457592 Pat14;Pat7;Pat1 PubMed: Spiekerkoetter 2003, PubMed: Spiekerkoetter 2004, PubMed: Gillingham 2005 family, 2 affected sibs F - United States white - - - - MTPD no hypoglycemia, no cardiomyopathy, skeletal myopathy 1 2 Johan den Dunnen
00457593 Pat15;Pat8 PubMed: Spiekerkoetter 2003, PubMed: Spiekerkoetter 2004 patient M - United States white - - - - MTPD no hypoglycemia, no cardiomyopathy, skeletal myopathy 2 1 Johan den Dunnen
00457607 Pat5 PubMed: Sperk 2010 - M - Germany - - - - - ? neonatal onset; cardiomyopathy, myopathy; no neuropathy; no retinopathy; hypoglycemia 1 1 Johan den Dunnen
00457608 Pat6 PubMed: Sperk 2010 - F - Germany - - - - - ? neonatal onset; cardiomyopathy, no myopathy; no neuropathy; no retinopathy; hypoglycemia 1 1 Johan den Dunnen
00457619 Pat11 PubMed: Grunert 2021 patient M - Germany - - - - - ? newborn screening; no motor neuropathy, no sensory neuropathy; walk independently 1 1 Johan den Dunnen
00457630 Pat3 PubMed: Choi 2007 - F - Korea - - - - - MTPD see paper; ... 2 1 Johan den Dunnen
00457631 Pat4 PubMed: Choi 2007 - M - Korea - - - - - MTPD see paper; ... 2 1 Johan den Dunnen
00457633 patient;Pat12 PubMed: Yagi 2011, PubMed: Bo 2017 - F - Japan - - - - - MTPD see paper; ..., fatigued easily on long walk, myalgia, 9y-rhabdomyolysis; no hypoparathyroidism; peripheral neuropathy; maternal pregnancy no complications 2 1 Johan den Dunnen
00457635 Pat1 PubMed: Diekman 2013 - F yes Netherlands white 10d - - - MTPD see paper; ..., 10d-deceased (severe necrotizing enterocolitis, cardiomyopathy, multiorgan failure); newborn screening newborn screening LCHAD deficiency 1 1 Johan den Dunnen
00457636 Pat2 PubMed: Diekman 2013 - M yes Netherlands - 31d - - - MTPD see paper; ..., 31d-deceased (severe infant respiratory distress syndrome, hypertrophic cardiomyopathy); newborn screening newborn screening LCHAD deficiency 1 1 Johan den Dunnen
00457671 patient;Pat5 PubMed: Kobayashi 2015, PubMed: Bo 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Japan - 00y00m40d - - - MTPD see paper; ..., 40d-deceased; severe metabolic acidosis; no hypoparathyroidism; no peripheral neuropathy; maternal 33w pregnancy AFLP,genital bleeding, abdominal pain 1 1 Johan den Dunnen
00457672 patient PubMed: Ojala 2015 - - - Finland - - - - - ? see paper; ..., 32w-birth severely asphyxiated 1 1 Johan den Dunnen
00457673 patient PubMed: Fu 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents F - China - - - - - MTPD see paper; ..., lower limb weakness 1 1 Johan den Dunnen
00457674 patient PubMed: Shahrokhi 2017 - - - Iran - - - - - MTPD see paper; ..., myocardiopathy, impaired liver function, hypoglycemia 1 1 Johan den Dunnen
00457680 Pat1 PubMed: Lu 2018 - M - China - - - - - CMT see paper; ..., infantile axonal Charcot-Marie-Tooth disease; delayed motor development, slowly-progressing distal muscle weakness with areflexia, foot deformities 2 1 Johan den Dunnen
00457681 Pat2 PubMed: Lu 2018 - M - China - - - - - CMT see paper; ..., infantile axonal Charcot-Marie-Tooth disease; delayed motor development,slowly-progressing distal muscle weakness with areflexia, foot deformities 2 1 Johan den Dunnen
00457683 Pat3 PubMed: Gillingham 2005 sib F - United States - - - - - MTPD see paper; ... (long-term follow-up) 1 1 Johan den Dunnen
00457715 Pat3 PubMed: Diebold 2019 phenotype-based NGS screening 403 individuals - - Germany - - - - - ? see paper; ..., neuropathy (axonal, sensorimotor), distal muscle atrophy, elevated creatine kinase (max. 2473 U/l), left rebnal dyplasia, small stature 1 1 Johan den Dunnen
00457723 Pat11 PubMed: Diebold 2019 phenotype-based NGS screening 403 individuals - - Germany - - - - - ? - 1 1 Johan den Dunnen
00457724 Pat12 PubMed: Diebold 2019 phenotype-based NGS screening 403 individuals - - Germany - - - - - ? - 1 1 Johan den Dunnen
00457728 Pat3 PubMed: Bo 2017 - M - Japan - 13d - - - MTPD see paper; ..., 13d-deceased; no hypoparathyroidism; no peripheral neuropathy; maternal pregnancy HELLP syndrome 1 1 Johan den Dunnen
00457729 Pat6 PubMed: Bo 2017 - M - Japan - 2y - - - MTPD see paper; ..., 2y-deceased rhabdomyolysis; hypoparathyroidism; no peripheral neuropathy; maternal pregnancy no complications 2 1 Johan den Dunnen
00457730 patient PubMed: van Vliet 2018 - F - Netherlands - - - - - MTPD see paper; ..., progressive dyspnoea, difficulty swallowing preceede 6d by fever, abdominal pain, vomiting, diarrhoea, increased muscle weakness 2 1 Johan den Dunnen
00457731 patient PubMed: Yamamoto 2017 - M - Japan - - - - - CMT see paper; ..., slowly progressive muscle weakness, sensory disturbances his lower limbs; multiple episodes exercise-induced severe muscle fatigue, brown urine childhood (disappeared by20y); peripheral axonal neuropathy; 55y-severe rhabdomyolysis 1 1 Johan den Dunnen
00457732 patient PubMed: Liu 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F - China - - - - - MTPD see paper; ..., neuromyopathic form; recurrent rhabdomyolysis; 7y-mild periodic muscle weakness, myalgia; subacute fatigue, exercise intolerance, pain in lower limbs triggered by cold/exercise 2 1 Johan den Dunnen
00457738 patient;FB854 PubMed: Vieira Neto 2024 - F - United States - 04y - - - MTPD see paper; ... 2 1 Johan den Dunnen
00457739 FB861 PubMed: Vieira Neto 2024 - M - United States - - - - - MTPD see paper; ... 2 1 Johan den Dunnen
00457740 patient PubMed: Ishikawa 2023 - F - Japan - - - - - MTPD see paper; ..., 3y-gait disturbance, hereditary neuropathy 1 1 Johan den Dunnen
00457950 patient PubMed: Veenvliet 2022 - F - Netherlands - - - - - MTPD see paper; ..., neonatal-onset cardiomyopathy, rhabdomyolysis, hypoglycemia, lactic acidosis, tachypnea, tachycardia, hypothermia, transient hypotonia, epilepsy, delayed gross motor skills; very extensive phenotype follow-up 2 1 Johan den Dunnen
00457951 patient PubMed: Das 2006 2-generation family, 1 affected, unaffected heterozygous carrier father/non-carrier mother M - Germany - - - - - MTPD see paper; ..., 42d-deceased (acute heart failure); newborn lactic acidosis, pulmonary edema, cardiomyopathy 2 1 Johan den Dunnen
00457959 Pat8 PubMed: Sander 2005 - - - Germany - - - - - ? see paper; ..., birth 35w, Cesarean sectionweight 1900g (3 perc.); pathological CTG, placenta insufficiency 2 1 Johan den Dunnen
00457961 Pat10 PubMed: Sander 2005 - - - Germany - - - - - ? see paper; ..., birth 40w, Spontaneousweight 3730g (75 perc.); pregnancy no complications 1 1 Johan den Dunnen
00457962 Pat11 PubMed: Sander 2005 family, affected and 3 affected sibs (1d-deceased) - - Turkey - - - - - ? see paper; ..., birth 33w, Cesarean sectionweight 1300g (3 perc.); HELLP syndrome 1 4 Johan den Dunnen
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