Detection of sepiapterin in CSF of patients with sepiapterin reductase deficiency
| Autor: | Beat Thöny, U. Redweik, Johann Penzien, Nenad Blau, Heike Trippe, Giovanna Zorzi |
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| Rok vydání: | 2002 |
| Předmět: |
medicine.medical_specialty
Sepiapterin Endocrinology Diabetes and Metabolism Biology Biochemistry Fluorescence chemistry.chemical_compound Endocrinology Hyperphenylalaninemia Biogenic amine Internal medicine Genetics medicine Humans In patient Hplc method Sepiapterin reductase Molecular Biology Chromatography High Pressure Liquid chemistry.chemical_classification Pteridines Tetrahydrobiopterin medicine.disease Pterins Alcohol Oxidoreductases chemistry Sepiapterin reductase deficiency medicine.drug |
| Zdroj: | Molecular genetics and metabolism. 75(2) |
| ISSN: | 1096-7192 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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