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Summary
HYPERGLYCINURIA
AMINOGLYCINURIA TYPE 2
138500
OMIM = Online Medalian Inheritance of Men
62062
5q33.1
rare
autosomal dominant
mutation in the SLC36A2 gene
symptoms
no consistent clinical signs or symptoms
onset, childhood
onset, infancy
laboratory finding
Glycine mmol/mol Creaurine
Literature
Delatycki MBWilliamson R, Forrest SMFriedreich ataxia: an overviewJ Med Genet3711,82000
Sturm Bet al.Friedreichs ataxia, no changes in mitochondrial labile iron in human lymphoblasts and fibroblasts: a decrease in antioxidative capacity?J Biol Chem28086701-67082005
Hallmann K,et al.A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsyNeurology83232183-21872014