GALT, GALK1, GALE and GALM genes Also known as: Galactose-1-Phosphate Uridylyltranserase Deficiency, GALT Deficiency, GALK Deficiency, GALE Deficiency and GALM Deficiency. OMIM#230400 https://omim.org/entry/230400 OMIM#230200 https://omim.org/entry/230200 OMIM#230350 https://omim.org/entry/230350 OMIM#2618881 https://omim.org/entry/618881...
ALDOB gene Also known as: Fructosemia OMIM # 229600 https://omim.org/entry/229600 1. The Disease: Hereditary fructose intolerance (HFI) is an autosomal recessive disorder of fructose (a type of monosaccharide sugar)...
FBP1 gene Also known as: FBP1 Deficiency; FBPase Deficiency; Fructose 1,6 Diphosphatase Deficiency OMIM # 229700 https://omim.org/entry/229700 1. The Disease: Fructose-1,6-bisphosphatase deficiency (FBP1D) is characterized by episodic acute crises...
CPS1 gene Also known as: CPS1 deficiency, hyperammonemia due to CPS1 deficiency OMIM#237300 https://omim.org/entry/237300 1. The disease: A rare, severe disorder of urea cycle metabolism typically characterized by either...
SLC25A13 gene Also known as: Citrin deficiency; Cholestasis, neonatal intrahepatic, caused by citrin deficiency (NICCD); Citrullinemia, type II, neonatal-onset, with or without failure to thrive and dyslipidemia (FTTDCD); CTLN2...
ASS1 gene Also known as: Classic citrullinemia; Argininosuccinate synthase deficiency; Argininosuccinic acid synthetase deficiency; ASS deficiency; CTLN1 OMIM#215700 https://omim.org/entry/215700 1. The disease: Citrullinemia type I (CTLN1) presents as a...
SLC6A8, GAMT and GATM gene Also known as: creatine deficiency syndromes, CCDS Include: creatine deficiency syndrome x-linked or creatine transporter defect OMIM#300352 https://omim.org/entry/300352 Guanidinoacetate methyltransferase deficiency (GAMT deficiency) OMIM#612736...
SLC22A5 gene Also known as: Carnitine Transport Defect; Carnitine Uptake Defect; CDSP OMIM#212140 https://omim.org/entry/212140 1. The disease: Systemic primary carnitine deficiency (CDSP) is a disorder of the carnitine cycle...
CPT2 gene Also known as: CPT2; CPT2 deficiency; CPTII neonatal form; CPTII infantile severe form; CPTII myopathic form OMIM#600649 https://omim.org/entry/600649 1. The disease: Carnitine palmitoyltransferase II (CPT II) deficiency...
CPT1A gene Also known as: CPT1; CPT1A deficiency; L-CPT1 deficiency (OMIM#255120 https://omim.org/entry/255120) 1. The disease: Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism, which affects mitochondrial...