IDUA gene Includes: Hurler-Scheie syndrome – OMIM#607015 https://omim.org/entry/607015 Scheie syndrome – OMIM#607016 https://omim.org/entry/607016 1. The Disease: Mucopolysaccharidosis I (MPS I), or Hurler syndrome, is a lysosomal storage disease leading...
TCN2 gene Also known as: TCII deficiency; TCN2 deficiency – OMIM#275350 https://omim.org/entry/275350 1. The disease: Transcobalamin II (TCII) is an essential plasma protein for the absorption, transportation, and cellular...
Includes: – Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency – MMUT gene – Also known as: Methylmalonic academia due to methylmalonyl-coa mutase deficiency, Methylmalonic Aciduria Vitamin B12 non-responsive, MUT...
Includes: · Homocystinuria – MTHFR gene – Also known as: Homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity; methylenetetrahydrofolate reductase deficiency; MTHFR deficiency – OMIM#236250 https://omim.org/entry/236250 · Homocystinuria, cblE type –...
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...