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Article

Tetrahydrobiopterin-deficient hyperphenylalaninemia in the Chinese.

Clinica chimica acta; international journal of clinical chemistry - 1 Nov 2001

Liu T T, Chiang S H, Wu S J, Hsiao K J

Abstract excerpt

BACKGROUND: Hyperphenylalaninemia (HPA) may be caused by either a deficiency in phenylalanine-4-hydroxylase or in tetrahydrobiopterin (BH4), the essential cofactor required for the hydroxylation of aromatic amino acids. The most common forms of BH4 deficiency are 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency (MIM 261640) and dihydropteridine reductase (DHPR) deficiency (MIM 261630), which require a...

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PMID: 11694255
DOI: 10.1016/s0009-8981(01)00669-6

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