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, vol.44, no.1, pp.49-53, 2002 (SCI-Expanded) identifier identifier identifier

  • 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.