CBS gene Also known as: Classic homocystinuria; Homocystinuria with or without response to pyridoxine (B6); Homocystinuria due to cystathione beta-synthase deficiency; CBS deficiency OMIM#236200 https://omim.org/entry/236200 1. The disease: Homocystinuria...
HLCS gene OMIM#253270 https://omim.org/entry/253270 1. The disease: Holocarboxylase synthetase (HLCS) deficiency is a rare inborn disorder of biotin metabolism, which results in defects in several biotin-dependent carboxylases and presents...
SLC2A2 gene Also known as: Glycogen Storage Disease XI;Toni-Debré-Fanconi syndrome; Hepatorenal glycogenosis with renal Fanconi syndrome; Hepatic glycogenosis with Fanconi Nephropathy; Hepatic glycogenosis with amino aciduria and glucosuria; Fanconi...
Includes: – Glycogen Storage Disease Type Ia – GSD Ia (G6PC gene) – Also known as: von Gierke disease; Hepatorenal form of glycogen storage disease; Glucose-6-phosphatase deficiency; Hepatorenal glycogenosis;...
GYS2 gene Also known as: GSD0a; Hypoglycemia with deficiency of glycogen synthetase in the liver; liver glycogen synthase deficiency; Liver glycogen storage disease 0, GSD 0a. OMIM#240600 https://omim.org/entry/240600 1....
GYS1 gene Also known as: Glycogen storage disease due to muscle and heart glycogen synthase deficiency, GSD 0b OMIM#611556 https://omim.org/entry/611556 1. The Disease: Glycogen storage disease due to muscle...
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...