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

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 inheri...

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Veröffentlicht in:	Turkish journal of pediatrics 2002-01, Vol.44 (1), p.49-53
Hauptverfasser:	Yilmazer, Tuncay, van Gennip, Albert H, Abeling, Nico G G M, Ozalp, Imran, Coşkun, Turgay, Bakker, Henk D
Format:	Artikel
Sprache:	eng
Schlagworte:	Child Consanguinity Female Glycogen Debranching Enzyme System - blood Glycogen Storage Disease - complications Glycogen Storage Disease - genetics Glycogen Storage Disease - metabolism Humans Phenylketonurias - complications Phenylketonurias - genetics Phenylketonurias - metabolism Pterins - urine
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