GLDC and AMT genes Also known as: Hyperglycinemia nonketotic; NKH; Hyperglycinemia transient neonatal, included OMIM#605899 https://omim.org/entry/605899 1. The disease: Nonketotic hyperglycinemia (NKH) is the inborn error of glycine metabolism...
GCDH gene Also known as: Glutaric aciduria, type I; Glutaryl-CoA Dehidrogenase Deficiency; GA1. OMIM#231670 https://omim.org/entry/231670 1. The disease: Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder...
SLC5A1 gene Also known as: Monosaccharide malabsorption; Glucose malabsorption (GM) OMIM # 606824 https://omim.org/entry/606824 1. The Disease: Glucose-galactose malabsorption (GGM) is a very rare, potentially lethal, genetic metabolic disease...
GBA gene Also known as: Glucocerebrosidase Deficiency, Glucosylceramidase Deficiency OMIM#230800 https://omim.org/entry/230800 1. The Disease: Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2...
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...