SLC25A20 gene Also known as: CACT deficiency (OMIM#212138 https://omim.org/entry/212138) 1. The disease: Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation, which usually presents in...
SLC52A2 and SLC52A3 gene Also known as: Brown-Vialetto-Van Laere syndrome 1; Brown-Vialetto-Van Laere syndrome 2; Riboflavin transporter deficiency 2 (RFVT2); Riboflavin transporter deficiency 3 (RFVT3); bulbar palsy, progressive, with...
BCKDK gene Also known as: Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency; BCKDK deficiency (BCKDKD). (OMIM#614923 https://omim.org/entry/614923) 1. The disease: A rare disorder of branched-chain amino...
BTD gene (OMIM#253260) 1. The disease Biotinidase deficiency is an inherited metabolic disorder of biotin (vitamin B7), which impairs the body’s ability to recycle biotin. Biotinidase deficiency is caused...
ASL gene. Also known as: Argininosuccinase Deficiency; Argininosuccinate Lyase Deficiency; ASL deficiency; Argininosuccinic acid lyase deficiency; ASA. (OMIM#207900) 1. The disease Rare genetic disorder of urea cycle metabolism typically...
Also known as: arginase deficiency; arginase deficiency disease; ARG1 deficiency; ARG (OMIM#207800) 1. The disease Argininemia (ARG) is a condition that causes harmful amounts of arginine and ammonia to...
Also known as: Mitochondrial complex I deficiency, nuclear type 20; MC1DN20; Mitochondrial complex I deficiency due to ACAD9 deficiency; Acyl-CoA dehydrogenase 9 deficiency. (OMIM#611126 https://omim.org/entry/611126) 1. The disease ACAD9...
Also known as: 3-hydroxy-3-methylglutaryl-CoA lyase deficiency,3-HMG-CoA lyase deficiency, HMGCLD (OMIM#246450 https://omim.org/entry/246450) 1. The disease A rare organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA lyase characterized by episodes of metabolic...
Also known as: 3-HMG-CoA synthase-2 deficiency, mitochondrial HMG-CoA synthase, HMGCS2D (OMIM#2605911) 1. The disease 3-hydroxy-3-methylglutaryl-CoA synthase deficiency (HMG-CoA synthase deficiency) is a rare autosomal recessive inborn error of hepatic...