Dihydropteridine reductase deficiency: Clinical, biochemical and therapeutic aspects

  title={Dihydropteridine reductase deficiency: Clinical, biochemical and therapeutic aspects},
  author={Roberto Cerone and Silvia Scalisi and Mario Cotellessa and Maria Cristina Schiaffino and Ubaldo Caruso and Caro Romano},
  journal={Journal of Inherited Metabolic Disease},
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 (Kaufmann et al, 1975) or dihydrobiopterin synthetase (Bartholome etal., 1977) or GPT-cyclohydrolase (EC (Nieder- wieser et al1982). In addition to hyperphenylalaninaemia, most infants and children with congenital defects of biopterin metabolism have decreased levels of neurotransmitter metabolites… CONTINUE READING

Tables from this paper.


Publications citing this paper.

Changes of Cerebral Biopterin and Biogenic Amine Metabolism in Leukemic Children Receiving 5 g/m2 Intravenous Methotrexate

Frédéric Millot, Jean-Louis Dhondt, +3 authors François Guilhot
  • Pediatric Research
  • 1995


Publications referenced by this paper.

Hyperphenylalaninemia with neopterin deficiency. A new enzyme defect presumably of GPT-cyclohydrolase

A. Niederwieser, W. Staudenmam, +3 authors J. Crdesa-Garcia
  • Eur. J. Pediatr
  • 1982

Hyperphenytataninemia due to dihydropteridine reductase deficiency ; diagnosis by enzyme assay on dried blood spots

N. Arai, K. Narisawa, K. Tada
  • Pediatrics
  • 1982

Malignant hyperphenylalaninaemiaCurrent status ( June , 1977 )

D. M. Danks, B. E. Clayton, H. Curtius, F. Rey
  • J . Inher . Metab . Dis .