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PHENYLKETONURIA WITH A PROGRESSIVE NEUROLOGICAL DISORDER NOT RESPONSIVE TO TETRAHYDROBIOPTERIN
Author(s) -
WESTWOOD A.,
BARR D. G. D.
Publication year - 1982
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1982.tb09536.x
Subject(s) - biopterin , tetrahydrobiopterin , medicine , hyperphenylalaninemia , phenylalanine , endocrinology , phenylalanine hydroxylase , metabolic disorder , pediatrics , biochemistry , biology , nitric oxide synthase , amino acid , nitric oxide
. Phenylketonuria with progressive neurological deterioration is now well known, and has usually been shown to be the result of a defect in biopterin metabolism. This report describes a baby with a progressive neurological disorder present from birth and marked hyperphenylalaninaemia. This responded biochemically, but not clinically, to restriction of phenylalanine in the diet but not to the administration of tetrahydrobiopterin, and no evidence of a defect in biopterin metabolism was detected.