Journal article

Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia

S Kure, K Kato, A Dinopoulos, C Gail, TJ deGrauw, J Christodoulou, V Bzduch, R Kalmanchey, G Fekete, A Trojovsky, B Plecko, G Breningstall, J Tohyama, Y Aoki, Y Matsubara

HUMAN MUTATION | WILEY-LISS | Published : 2006


Nonketotic hyperglycinemia (NKH) is an inborn error of metabolism characterized by accumulation of glycine in body fluids and various neurological symptoms. NKH is caused by deficiency of the glycine cleavage multi-enzyme system with three specific components encoded by GLDC, AMT, and GCSH. We undertook the first comprehensive screening for GLDC, AMT, and GCSH mutations in 69 families (56, six, and seven families with neonatal, infantile, and late-onset type NKH, respectively). GLDC or AMT mutations were identified in 75% of neonatal and 83% of infantile families, but not in late-onset type NKH. No GCSH mutation was identified in this study. GLDC mutations were identified in 36 families, and..

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