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Hyperphenylalaninaemia due to impaired dihydrobiopterin biosynthesis: Leukocyte function and effect of tetrahydrobiopterin therapy
Author(s) -
Fukuda K.,
Tanaka T.,
Hyodo S.,
Kobayashi Y.,
Usui T.
Publication year - 1985
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01801661
Subject(s) - tetrahydrobiopterin , biopterin , neurotransmitter , medicine , endocrinology , biosynthesis , pharmacology , biology , central nervous system , biochemistry , enzyme , nitric oxide synthase , nitric oxide
We have described the clinical and biochemical status of two patients with tetrahydrobiopterin (BH 4 ) deficiency due to impaired dihydrobiopterin biosynthesis. BH 4 administration appeared to improve the mental and psychological status more than did neurotransmitter replacement therapy alone. This enhancement of activities of daily life was seen with a dose of BH 4 as low as 1.25 mg kg −1 day −1 . Granulocyte adherence capacity was below normal and recovered after BH 4 therapy in both patients. B‐cell differentiation capacity was altered either before or after therapy.