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Nystagmus and subnormal electroretinographic response in nonketotic hyperglycinemia

โœ Scribed by S. Hayasaka; T. Setogawa; S. Hara; S. Ishizawa; K. Hayasaka; K. Tada


Book ID
112701669
Publisher
Springer-Verlag
Year
1987
Tongue
English
Weight
187 KB
Volume
225
Category
Article
ISSN
0065-6100

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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