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Successful long term therapy of biopterin deficiency
Author(s) -
Snyderman S. E.,
Sansaricq C.,
Pulmones M. T.
Publication year - 1987
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01800072
Subject(s) - biopterin , carbidopa , tetrahydrobiopterin , neopterin , medicine , hyperphenylalaninemia , levodopa , urine , endocrinology , pediatrics , phenylalanine , disease , parkinson's disease , chemistry , biochemistry , nitric oxide synthase , amino acid , nitric oxide
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.