Phenylketonuria and glycogen storage disease type III in sibs of one family

Yilmazer T., van Gennip A., Abeling N., Ozalp I., Coskun T., Bakker H.

TURKISH JOURNAL OF PEDIATRICS, cilt.44, sa.1, ss.49-53, 2002 (SCI-Expanded) identifier identifier identifier

  • 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.