Detection of sepiapterin in CSF of patients with sepiapterin reductase deficiency

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

Research output: Contribution to journalArticlepeer-review


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 languageEnglish
Pages (from-to)174-177
Number of pages4
JournalMolecular Genetics and Metabolism
Issue number2
Publication statusPublished - 2002

ASJC Scopus subject areas

  • Biochemistry
  • Genetics
  • Endocrinology, Diabetes and Metabolism


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