Tetrahydrobiopterin metabolism was studied in nine Swedish patients with the Rett disease. Normal values were found for the serum biopterin level, urine biopterins level and dihydropterine reductase activity. These findings suggest that a primary disturbance of tetrahydrobiopterin metabolism is unlikely.
All Science Journal Classification (ASJC) codes
- Pediatrics, Perinatology, and Child Health
- Developmental Neuroscience
- Clinical Neurology
- Rett disease/syndrome
- Tetrahydrobiopterin metabolism
- infantile dementia