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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.