    2.7.1.31 | malfunction |
a mutation in the GLYCTK gene encoding D-glycerate kinase causes glyceric aciduria. D-glyceric aciduria causes a blockage to the glycine cleavage enzyme system (GCS). The mutation S117L, a homozygous missense mutation in aminomethyltransferase (AMT, EC 2.1.2.10), causes nonketotic hyperglycinemia (NKH), but no evidence is found that D-glyceric aciduria would cause nonketotic hyperglycinemia (NKH) as a secondary phenomenon. The AMT p.Arg320His mutation is included as the most common AMT mutation observed in NKH patients and when homozygous, is always observed in a severe phenotype |
759778 |
