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Article

Tetrahydrobiopterin responsiveness after extended loading test of 12 Danish PKU patients with the Y414C mutation.

Journal of inherited metabolic disease - 1 Feb 2010

Nielsen Jytte Bieber, Nielsen Karin E, Güttler Flemming

Abstract excerpt

Phenylketonuria (PKU) is an inherited metabolic disease characterized by phenylalanine (Phe) accumulation due to defects in the enzyme phenylalanine hydroxylase (PAH). Phe accumulation can lead to cognitive impairment. Some individuals with PKU respond to tetrahydrobiopterin (BH4) treatment, the natural cofactor of PAH, by a reduction in blood Phe concentrations.We tested 12 patients with PKU, 8-29 years of age,...

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Identifiers

PMID: 20063067
DOI: 10.1007/s10545-009-9002-0

Genes

PAH

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