Dihydropteridine reductase deficiency: non-response to oral tetrahydrobiopterin load test

J Inherit Metab Dis. 1984;7(2):69-71. doi: 10.1007/BF01805806.

Abstract

In a child with dihydropteridine reductase deficiency (McKusick 26163) none of four separate oral tetrahydrobiopterin loading tests resulted in a decrease of the serum phenylalanine concentration. This test cannot be recommended for screening hyperphenylalaninaemic patients for dihydropteridine reductase deficiency.

Publication types

  • Case Reports

MeSH terms

  • Biopterins* / analogs & derivatives
  • Female
  • Fibroblasts / enzymology
  • Humans
  • Infant
  • Lymphocytes / enzymology
  • NADH, NADPH Oxidoreductases / deficiency*
  • Phenylalanine / blood
  • Phenylketonurias*
  • Pteridines*
  • Tyrosine / blood

Substances

  • Pteridines
  • Biopterins
  • Tyrosine
  • Phenylalanine
  • NADH, NADPH Oxidoreductases
  • sapropterin