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

doi:10.1007/BF01799654

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 journal › Article › Research › peer-review

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Abstract

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 language	English
Pages (from-to)	239-243
Number of pages	5
Journal	Journal of Inherited Metabolic Disease
Volume	9
Issue number	3
DOIs	https://doi.org/10.1007/BF01799654
Publication status	Published - 1 Sep 1986
Externally published	Yes

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10.1007/BF01799654

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abstract = "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.",

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AU - Jennings, I.

AU - Bracco, G.

AU - Ponzone, A.

AU - Guardamagna, O.

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N2 - 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.

AB - 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.

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