Four cases of neonatal non-ketotic hyperglycinaemia

被引：3

作者：

Atay, E ^{[1
]}

Bozaykut, A ^{[1
]}

Sezer, G ^{[1
]}

机构：

[1] Zeynep Kamil Educ & Res Hosp Matern & Childrens D, Istanbul, Turkey

来源：

ANNALS OF TROPICAL PAEDIATRICS | 2004年 / 24卷 / 04期

关键词：

D O I：

10.1179/027249304225019172

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

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.

引用

页码：345 / 347

页数：3

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