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 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 44 Issue: 1
  • Publication Date: 2002
  • Title of Journal : TURKISH JOURNAL OF PEDIATRICS
  • Page Numbers: pp.49-53

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.