Four cases of neonatal non-ketotic hyperglycinaemia
Annals of Tropical Paediatrics, cilt.24, sa.4, ss.345-347, 2004 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 24 Sayı: 4
- Basım Tarihi: 2004
- Doi Numarası: 10.1179/027249304225019172
- Dergi Adı: Annals of Tropical Paediatrics
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.345-347
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
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. © 2004 The Liverpool School of Tropical Medicine.