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Mol Genet Metab. 2002 Feb;75(2):174-7.

Detection of sepiapterin in CSF of patients with sepiapterin reductase deficiency.

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  • 1Division of Clinical Chemistry and Biochemistry, University Children's Hospital, Steinwiesstrasse 75, 8032 Zurich, Switzerland.


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. Sepiapterin was elevated in CSF from two patients with SR deficiency (5.6 and 11.4 nmol/L) when compared with healthy controls (<0.5 nmol/L). Our data further support the hypothesis that sepiapterin is an intermediate in the salvage pathway of BH(4) and that it accumulates in the brain of patients with SR deficiency.

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