Tetrahydrobiopterin non‐responsiveness in dihydropteridine reductase deficiency is associated with the presence of mutant protein | Zendy

Cotton R. G. H. | Zendy; Jennings I. | Zendy; Bracco G. | Zendy; Ponzone A. | Zendy; Guardamagna O. | Zendy

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Tetrahydrobiopterin non‐responsiveness in dihydropteridine reductase deficiency is associated with the presence of mutant protein

Author(s) -

Cotton R. G. H.,

Jennings I.,

Bracco G.,

Ponzone A.,

Guardamagna O.

Publication year - 1986

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 - 10.1007/bf01799654

Subject(s) - tetrahydrobiopterin , mutant , metabolic disease , biopterin , mutation , phenylalanine hydroxylase , chemistry , endocrinology , medicine , biochemistry , enzyme , cofactor , phenylalanine , amino acid , gene

Correlation of the response to a load of tetrahydrobiopterin (BH 4 ) in dihydropterin reductase (DHPR) deficient patients to the type of mutation in these patients has led to the conclusion that 4 patients without mutant DHPR molecules in their cells respond to the BH 4 load, whereas 3 patients with mutant DHPR in their cells do not respond. Intravenous injection of BH 4 in 1 of the cases not responding to BH 4 again showed no response.

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