Identification of a common 6-pyruvoyl-tetrahydropterin synthase mutation at codon 87 in Chinese phenylketonuria caused by tetrahydrobiopterin synthesis deficiency.

doi:10.1007/s004390050213

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Article

Identification of a common 6-pyruvoyl-tetrahydropterin synthase mutation at codon 87 in Chinese phenylketonuria caused by tetrahydrobiopterin synthesis deficiency.

Human genetics - 1 Sept 1996

Liu T T, Hsiao K J

Abstract excerpt

Deficiency in 6-pyruvoyl-tetrahydropterin synthase (PTPS) activity is the major cause of tetrahydrobiopterin (BH4)-deficient phenylketonuria. Two single base alterations of PTPS cDNA, a C-to-T transition at nucleotide 259 and a novel A-to-G transition at nucleotide 155 (according to cDNA sequence...

Topics

Adult
Alcohol Oxidoreductases
Biopterins
Child
Child, Preschool
China
Codon
DNA, Complementary
Humans
Infant
Male
Mutation
Phenylketonurias
Phosphorus-Oxygen Lyases

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