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Four cases of neonatal non-ketotic hyperglycinaemia.

Authors
Type
Published Article
Journal
Annals of tropical paediatrics
Publication Date
Volume
24
Issue
4
Pages
345–347
Identifiers
PMID: 15720892
Source
Medline

Abstract

Non-ketotic hyperglycinaemia is an autosomal recessive disorder of glycine metabolism caused by a defect in the glycine cleavage system. Affected neonates present with lethargy, feeding difficulty, hypotonia, apnoea, poorly controlled convulsions and coma. Four cases are reported, three of whom died in the neonatal period. The fourth case was treated with dextromethorphan and sodium benzoate. He survived with neurodevelopmental delay but is now almost seizure-free.

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