Comprehensive mutation analysis of GLDC,
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Shigeo Kure; Kumi Kato; Agirios Dinopoulos; Chuck Gail; Ton J. deGrauw; John Chr
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Article
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2006
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John Wiley and Sons
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English
⚖ 272 KB
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 under