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A Missense Mutation (A to G) of 6-Pyruvoyltetrahydropterin Synthase in Tetrahydrobiopterin-Deficient Form of Hyperphenylalaninemia

โœ Scribed by Akira Ashida; Misao Owada; Kazuyuki Hatakeyama

Book ID
115612488
Publisher
Elsevier Science
Year
1994
Tongue
English
Weight
153 KB
Volume
24
Category
Article
ISSN
0888-7543

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Hyperphenylalaninemia (HPA) may be caused by deficiency of phenylalanine hydroxylase or tetrahydrobiopterin (BH4), the essential cofactor for the aromatic amino acid hydroxylases. 6-Pyruvoyl-tetrahydropterin synthase (PTPS) deficiency is a major cause of BH4 deficient HPA. In this study, seven singl

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Mutations in the 6-pyruvoyltetrahydropterin synthase (PTPS) gene result in persistent hyperphenylalaninemia and severe catecholamine and serotonin deficiencies. We investigated at the DNA level a family with a PTPS-deficient child presenting with an unusual form of transient hyperphenylalaninemia. T

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The enzyme 6-Pyruvoyl-tetrahydropterin synthase (PTS) deficiency is the major cause of BH 4 -deficient HPA. The frequency of BH 4 -deficient HPA was estimated to be around 30% among Chinese HPA population in Taiwan, which is much higher than that in Caucasian population (1.5-2% of HPA). Approximatel