Phenylketonuria and glycogen storage disease type III in sibs of one family
TURKISH JOURNAL OF PEDIATRICS, cilt.44, sa.1, ss.49-53, 2002 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 44 Sayı: 1
- Basım Tarihi: 2002
- Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.49-53
- Hacettepe Üniversitesi Adresli: Hayır
Özet
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.