Detection of Sepiapterin in CSF of patients with Sepiapterin Reductase Deficiency
- 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 (<0.5 nmol/L). Our data further support the hypothesis that sepiapterin is an intermediate in the salvage pathway of BH4 and that it accumulates in the brain of patients with SR deficiency.
| Author: | Giovanna Zorzi, Udo Redweik, Heike Trippe, Johann M. Penzien, Beat Thöny, Nenad Blau |
|---|---|
| Frontdoor URL | https://opus.bibliothek.uni-augsburg.de/opus4/112290 |
| ISSN: | 1096-7192OPAC |
| Parent Title (English): | Molecular Genetics and Metabolism |
| Publisher: | Elsevier BV |
| Place of publication: | Amsterdam |
| Type: | Article |
| Language: | English |
| Year of first Publication: | 2002 |
| Release Date: | 2024/04/08 |
| Tag: | Endocrinology; Genetics; Molecular Biology; Biochemistry; Endocrinology, Diabetes and Metabolism |
| Volume: | 75 |
| Issue: | 2 |
| First Page: | 174 |
| Last Page: | 177 |
| DOI: | https://doi.org/10.1006/mgme.2001.3273 |
| Institutes: | Medizinische Fakultät |
| Medizinische Fakultät / Universitätsklinikum | |
| Medizinische Fakultät / Lehrstuhl für Kinder- und Jugendmedizin | |
| Dewey Decimal Classification: | 6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 610 Medizin und Gesundheit |
