Summary
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.
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Snyderman, S.E., Sansaricq, C. & Pulmones, M.T. Successful long term therapy of biopterin deficiency. J Inherit Metab Dis 10, 260–266 (1987). https://doi.org/10.1007/BF01800072
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DOI: https://doi.org/10.1007/BF01800072