Molecular analysis of dihydropteridine reductase deficiency and restoration of the enzyme activity by gene transfer
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説明
Dihydropteridine reductase (DHPR) (EC 1.6.99.7) catalyses the reduction ofquinonoid dihydrobiopterin to 5,6,7,8-tetrahydrobiopterin (BH4) which is a cofactor for the hydroxylation of phenylalanine, tyrosine and tryptophan. BH4 is essential for normal function of the central nervous system because this defect results in an impaired biosynthesis of the neurotransmitters, dopamine and serotonin. DHPR deficiency is a variant form of hyperphenylalaninaemia (Danks et al., 1978) and is manifested by neurological and mental deterioration in early infancy despite dietary control of blood phenylalanine concentration. The present paper describes the analysis of a patient with DHPR deficiency to identify the molecular defect in the DHPR gene and an experiment on gene expression of DHPR cDNA in DHPR deficient cells.
収録刊行物
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- Journal of Inherited Metabolic Disease
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Journal of Inherited Metabolic Disease 13 787-791, 1990-09-01
Wiley
