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Valine-sensitive nonketotic hyperglycinemia:Case report

Authors
Journal
The Journal of Pediatrics
0022-3476
Publisher
Elsevier
Publication Date
Volume
85
Issue
1
Identifiers
DOI: 10.1016/s0022-3476(74)80283-0

Abstract

An infant with nonketotic hyperglycinemia (NKH) who developed coma in response to oral valine is described.Valine loading tests confirmed that hyperglycinemia enhances valine toxicity. This valine-sensitive form of NKH was, like previous reports of NKH, associated with deficient conversion of glycine-1- 14CO 2 to 14CO 2. Treatment with sodium benzoate maintained normal plasma glycine levels after the second week of life and prevented brain-stem depression. Additional treatment with a low-valinellow-glycine formula from the third to the tenth month of life did not prevent the development of severe mental deficiency.

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