A Murine Model for Human Sepiapterin-Reductase Deficiency
نویسندگان
چکیده
منابع مشابه
Two Greek siblings with sepiapterin reductase deficiency.
BACKGROUND Sepiapterin reductase (SR) deficiency is a rare inherited disorder of neurotransmitter metabolism; less than 25 cases have been described in the literature so far. METHODS We describe the clinical history and extensive cerebrospinal fluid (CSF) and urine examination of two Greek siblings with the diagnosis of SR deficiency. The diagnosis was confirmed by enzyme activity measurement...
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Sepiapterin reductase (SR) deficiency was recently described in patients with a severe biogenic amine deficiency presenting without hyperphenylalaninemia and it was suggested that the tetrahydrobiopterin (BH(4)) pathway may be different in different cells and tissues. We now developed a HPLC method for the measurement of yellow fluorescing sepiapterin for the rapid diagnosis of SR deficiency. S...
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Sepiapterin reductase (SPR) is the enzyme that catalyzes the final step of the synthesis of tetrahydrobiopterin (BH4), the cofactor for phenylalanine hydroxylase, tyrosine hydroxylase (TH), tryptophan hydroxylase, and nitric oxide synthase (NOS). Although SPR is essential for synthesizing BH4, the distribution of SPR in the human brain has not yet been clarified. In the present study, we purifi...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2006
ISSN: 0002-9297
DOI: 10.1086/501372