title: Successful long term therapy of biopterin deficiency.
abstract: A hyperphenylalaninaemic infant, started on dietary therapy at 14 days of age, had severe developmental retardation and neurological abnormalities despite excellent biochemical control. A diagnosis of a deficit in biopterin synthesis was made at five months of age as a result of the following: high neopterin and low biopterin levels in both blood and urine, normal dihydropteridine reductase in the liver and a sharp drop in the plasma phenylalanine level 4 h after the administration of a test dose of tetrahydrobiopterin. Treatment with levodopa, carbidopa and 5-hydroxytryptophan resulted in prompt neurological improvement. This was followed by gradual and sustained development. At present, at the age of 7 years, the child is mentally and physically normal.
mesh_terms: D006916:5-Hydroxytryptophan / Q000627:therapeutic use; D001708:Biopterins / Q000031:analogs & derivatives / Q000097:blood / Q000172:deficiency* / Q000652:urine; D002230:Carbidopa / Q000627:therapeutic use; D004093:Dihydropteridine Reductase / Q000378:metabolism; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007980:Levodopa / Q000627:therapeutic use; D008099:Liver / Q000201:enzymology; D019798:Neopterin; D010649:Phenylalanine / Q000097:blood*; D010651:Phenylalanine Hydroxylase / Q000378:metabolism
chemical_list: D001708:Biopterins; D007980:Levodopa; D010649:Phenylalanine; D019798:Neopterin; D006916:5-Hydroxytryptophan; D010651:Phenylalanine Hydroxylase; D004093:Dihydropteridine Reductase; D002230:Carbidopa