Four cases of neonatal non-ketotic hyperglycinaemia

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...

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Bibliographic Details
Published inAnnals of tropical paediatrics Vol. 24; no. 4; pp. 345 - 347
Main Authors Atay, Enver, Bozaykut, Abdulkadir, Sezer, Gonul
Format Journal Article
LanguageEnglish
Published Leeds Taylor & Francis 01.12.2004
Maney
Taylor & Francis Ltd
Subjects
Biological and medical sciences
Biomarkers - blood
Biomarkers - cerebrospinal fluid
Fatal Outcome
General aspects
Glycine - blood
Glycine - cerebrospinal fluid
Humans
Hyperglycinemia, Nonketotic - blood
Hyperglycinemia, Nonketotic - cerebrospinal fluid
Hyperglycinemia, Nonketotic - diagnosis
Infant, Newborn
Male
Medical sciences
Asia
Turkey
Human
Case study
Pediatrics
Nervous system diseases
Newborn
Hyperglycinemia
Metabolic diseases
Tropical medicine
Enzymopathy
Aminoacid disorder
Genetic disease
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Summary: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.
Bibliography:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Feature-4
content type line 23
ObjectType-Report-1
ObjectType-Article-3
ISSN:0272-4936
2046-9047
1465-3281
2046-9055
DOI:10.1179/027249304225019172