title: Tetrahydrobiopterin metabolism in the Rett disease.
abstract: 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.
mesh_terms: D001708:Biopterins / Q000031:analogs & derivatives / Q000097:blood*; D002648:Child; D004093:Dihydropteridine Reductase / Q000097:blood*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000201:enzymology*; D009247:NADH, NADPH Oxidoreductases / Q000097:blood*; D019965:Neurocognitive Disorders / Q000201:enzymology*; D011621:Pteridines / Q000097:blood*; D013239:Stereotyped Behavior / Q000502:physiology*; D013577:Syndrome
chemical_list: D011621:Pteridines; D001708:Biopterins; D004093:Dihydropteridine Reductase; D009247:NADH, NADPH Oxidoreductases; C003402:sapropterin