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

R. G H Cotton, I. Jennings, G. Bracco, A. Ponzone, O. Guardamagna

Research output: Contribution to journalArticleResearchpeer-review

17 Citations (Scopus)


Correlation of the response to a load of tetrahydrobiopterin (BH4) 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 BH4 load, whereas 3 patients with mutant DHPR in their cells do not respond. Intravenous injection of BH4 in 1 of the cases not responding to BH4 again showed no response.

Original languageEnglish
Pages (from-to)239-243
Number of pages5
JournalJournal of Inherited Metabolic Disease
Issue number3
Publication statusPublished - 1 Sep 1986
Externally publishedYes

Cite this