Article
[Clinical and genetic analyses of a family with atypical nonketotic hyperglycinemia caused by compound heterozygous mutations in the GLDC gene].
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 1 Oct 2017
Jiang Tie-Jia, Jiang Jing-Jing, Xu Jia-Lu, Zhen Jing, Jiang Pei-Fang, Gao Feng
Abstract excerpt
Nonketotic hyperglycinemia (NKH) is an autosomal recessive hereditary disease caused by a defect in the glycine cleavage system and is classified into typical and atypical NKH. Atypical NKH has complex manifestations and is difficult to diagnose in clinical practice. This article reports a family of NKH. The parents had normal phenotypes, and the older brother and the younger sister developed this disease in the...
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