Abstract
Inborn errors of biopterin metabolism are detected in 1–3% of patients with hyperphenylalaninaemia and appear to result from a deficiency of dihydropteridine reductase (DHPR, EC 1.6.99.7) (Kaufmann et al, 1975) or dihydrobiopterin synthetase (Bartholome etal., 1977) or GPT-cyclohydrolase (EC 3.5.4.16) (Nieder- wieser et al1982). In addition to hyperphenylalaninaemia, most infants and children with congenital defects of biopterin metabolism have decreased levels of neurotransmitter metabolites in CSF.
Published Version
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