Article
Molecular genetics of tetrahydrobiopterin (BH4) deficiency in the Maltese population.
Molecular genetics and metabolism - 1 Mar 2007
Farrugia Rosienne, Scerri Christian A, Montalto Simon Attard, Parascandolo Raymond, Neville Brian G R, Felice Alex E
Abstract excerpt
Deficient activity of the Dihydropteridine Reductase enzyme (DHPR; EC 1.5.1.34; OMIM 261630) is due to mutations in the Quinoid Dihydropteridine Reductase gene on 4p15.3 (QDPR; RefSeq NM_000320). It results in defective recycling of tetrahydrobiopterin (BH(4)) and homozygotes have a rare form of atypical Hyperphenylalaninaemia and Phenylketonuria (aPKU). The heterozygote frequency in the Maltese population is...
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