Dihydrobiopterin synthesis defect: an adult with diurnal fluctuation of symptoms.
A deficiency of dihydrobiopterin synthesis was found in a 27-year-old man with mild mental retardation, rigid spasticity, hyperreflexia, dystonia, myoclonus, and delay in the initiation of action, since age 10. Symptoms improved after sleep. Urine contained large amounts of neopterin and a trace of biopterin. Dihydropteridine reductase activity in red blood cells was normal. CSF levels of HVA and 5-HIAA were low. Tetrahydrobiopterin administration lowered serum phenylalanine and improved the symptoms.
D000328:Adult; D000429:Alcohol Oxidoreductases / Q000172:deficiency*; D000592:Amino Acid Metabolism, Inborn Errors / Q000188:drug therapy / Q000503:physiopathology*; D001708:Biopterins / Q000031:analogs & derivatives* / Q000627:therapeutic use / Q000652:urine; D002940:Circadian Rhythm; D006719:Homovanillic Acid / Q000134:cerebrospinal fluid; D006801:Humans; D006897:Hydroxyindoleacetic Acid / Q000134:cerebrospinal fluid; D008297:Male; D019798:Neopterin; D010649:Phenylalanine / Q000097:blood*
D001708:Biopterins; D010649:Phenylalanine; D006897:Hydroxyindoleacetic Acid; D019798:Neopterin; C020037:7,8-dihydrobiopterin synthetase; D000429:Alcohol Oxidoreductases; C003402:sapropterin; D006719:Homovanillic Acid