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, ss.49-53, 2002 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 44 Konu: 1
  • Basım Tarihi: 2002
  • Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
  • Sayfa Sayıları: ss.49-53

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.