Tetrahydrobiopterin responsiveness in a large series of phenylke tonuria patients | Zendy

Weglage J. | Zendy; Grenzebach M. | Zendy; TeeffelenHeithoff A. v. | Zendy; Marquardt T. | Zendy; Feldmann R. | Zendy; Denecke J. | Zendy; Gödde D. | Zendy; Koch H. G. | Zendy

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Tetrahydrobiopterin responsiveness in a large series of phenylke tonuria patients

Author(s) -

Weglage J.,

Grenzebach M.,

TeeffelenHeithoff A. v.,

Marquardt T.,

Feldmann R.,

Denecke J.,

Gödde D.,

Koch H. G.

Publication year - 2002

Publication title -

journal of inherited metabolic disease

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.462

H-Index - 102

eISSN - 1573-2665

pISSN - 0141-8955

DOI - 10.1023/a:1016514727870

Subject(s) - tetrahydrobiopterin , hyperphenylalaninemia , phenylalanine , medicine , metabolic disease , phenylalanine hydroxylase , endocrinology , biopterin , pediatrics , chemistry , biochemistry , amino acid , nitric oxide synthase , nitric oxide

In a group of 87 consecutive patients with hyperphenylalaninaemia born since 1990, only 3 patients showed a (temporary) decrease of serum phenylalanine levels after tetrahydrobiopterin (BH 4 ) loading in usual doses (20 mg/kg body weight).

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