New variant of phenylketonuria with progressive neurological illness unresponsive to phenylalanine restriction.
Lancet, 1975/5/17;1(7916):1108-11.
PMID: 49470
Impact factor: 202.731
Abstract
Three children, two of them siblings, with an unusual type of phenylketonuria are described. The three patients, two of them observed from the neonatal period, had a progressive neurological illness which was unlike that of classical phenylketonuria, and which did not respond to a low phenylalanine diet. The biochemical features suggested that the block in the conversion of phenylalanine to tyrosine was less severe than in the classical disease, and phenylalanine rho-hydroxylase activity, measured in one patient was normal. It is suggested that the patients have a disorder of biopterin metabolism possibly due to a defect of the enzyme dihydropteridine reductase.
MeSH terms
Biopterins; Child; Child, Preschool; Deglutition Disorders; Dihydropteridine Reductase; Female; Humans; Infant; Intellectual Disability; Male; Neuromuscular Diseases; Phenylalanine; Phenylketonurias; Seizures; Tyrosine
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