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Two Novel Missense Mutations Observed in Nonketotic Hyperglycinemia

✍ Scribed by In Ae Yoon; Na Mi Lee; Byoung Hoon Yoo; Byong Sop Lee; Han-Wook Yoo


Book ID
116826108
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
330 KB
Volume
46
Category
Article
ISSN
0887-8994

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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