Detection of sepiapterin in CSF of patients with sepiapterin reductase deficiency

Giovanna Zorzi; Udo Redweik; Heike Trippe; Johann M. Penzien; Beat Thöny; Nenad Blau

doi:10.1006/mgme.2001.3273

Detection of sepiapterin in CSF of patients with sepiapterin reductase deficiency

Giovanna Zorzi, Udo Redweik, Heike Trippe, Johann M. Penzien, Beat Thöny, Nenad Blau

Fondazione IRCCS Istituto Neurologico "C. Besta"

Research output: Contribution to journal › Article › peer-review

Abstract

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 (BH₄) 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 (4 and that it accumulates in the brain of patients with SR deficiency.

Original language	English
Pages (from-to)	174-177
Number of pages	4
Journal	Molecular Genetics and Metabolism
Volume	75
Issue number	2
DOIs	https://doi.org/10.1006/mgme.2001.3273
Publication status	Published - 2002

ASJC Scopus subject areas

Biochemistry
Genetics
Endocrinology, Diabetes and Metabolism

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AU - Penzien, Johann M.

AU - Thöny, Beat

AU - Blau, Nenad

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AB - 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 (BH4) 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 (4 and that it accumulates in the brain of patients with SR deficiency.

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