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• W2008852220 abstract "Tetrahydrobiopterin deficiencies are highly heterogeneous disorders, with more than 30 molecular lesions identified in the past 2 years in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes. The spectrum of mutations causing a reduction of these two biosynthetic enzymes is reviewed. Only three mutations, two present homozygously, are reported in the GTP cyclohydrolase I gene to cause the rare autosomal recessively inherited form of hyperphenylalaninemia. Most of the other mutations, which are scattered over the entire coding region for the six exon-containing GTP cyclohydrolase I gene, are observed in a heterozygous state with the wild-type allele and are associated with the dominant DOPA-responsive dystonia. Compound heterozygous or homozygous mutations spread over all six exons encoding the 6-pyruvoyl-tetrahydropterin synthase cause an autosomal recessively inherited variant of hyperphenylalaninemia, mostly accompanied by a deficiency of dopamine and serotonin." @default.
• W2008852220 created "2016-06-24" @default.
• W2008852220 creator A5027259737 @default.
• W2008852220 creator A5071057140 @default.
• W2008852220 date "1997-01-01" @default.
• W2008852220 modified "2023-10-13" @default.
• W2008852220 title "Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes" @default.
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• W2008852220 doi "https://doi.org/10.1002/(sici)1098-1004(1997)10:1<11::aid-humu2>3.0.co;2-p" @default.
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