Phenylketonuria and glycogen storage disease type III in sibs of one family
TURKISH JOURNAL OF PEDIATRICS, vol.44, no.1, pp.49-53, 2002 (SCI-Expanded, Scopus)
- Publication Type: Article / Article
- Volume: 44 Issue: 1
- Publication Date: 2002
- Journal Name: TURKISH JOURNAL OF PEDIATRICS
- Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Page Numbers: pp.49-53
- Hacettepe University Affiliated: No
Abstract
Hyperphenylalaninemia result from a block in the conversion of phenylalanine into tyrosine due to a defect in either the enzyme phenylalanine hydroxylase (98% of subjects) or in the metabolism of the cofactor tetrahydrobiopterin. Phenylalanine hydroxylase deficiency is the most common form of inherited hyperphenylalaninemia disorders, with a prevalence between 1/4,000-1/40,000.