[Clinical and molecular genetic study of nonketotic hyperglycinemia in a Chinese family].

Abstract excerpt

Nonketotic hyperglycinemia (NKH) is a rare, inborn error of metabolism. In this case report, a Chinese male infant was diagnosed with NKH caused by GLDC gene mutation. The clinical characteristics and genetic diagnosis were reported. The infant presented with an onset of early metabolic encephalopathy and Ohtahara syndrome. Both blood and urinary levels of metabolites were in the normal range. Brain MRI images...

Topics

• Glycine Dehydrogenase (Decarboxylating)
• Humans
• Hyperglycinemia, Nonketotic
• Infant, Newborn
• Male
• Mutation