Isolated sulphite oxidase deficiency: clinical and biochemical features in an Italian patient

J Inherit Metab Dis. 2004;27(1):101-2. doi: 10.1023/b:boli.0000016674.61073.e4.

Abstract

A patient with isolated sulphite oxidase deficiency presented with seizures at 12 h of life and followed a severe course, dying at 10 months of age. There was mild facial dysmorphism and the brain showed multiple cystic fibrosis.

Publication types

  • Case Reports

MeSH terms

  • Apnea / etiology*
  • Cyanosis / etiology
  • Encephalomalacia / diagnosis
  • Encephalomalacia / etiology*
  • Epilepsy, Tonic-Clonic / etiology*
  • Face / abnormalities*
  • Fatal Outcome
  • Humans
  • Infant
  • Magnetic Resonance Imaging
  • Male
  • Metabolism, Inborn Errors / blood
  • Metabolism, Inborn Errors / complications*
  • Metabolism, Inborn Errors / diagnosis
  • Metabolism, Inborn Errors / metabolism*
  • Oxidoreductases Acting on Sulfur Group Donors / deficiency*
  • Urine / chemistry

Substances

  • Oxidoreductases Acting on Sulfur Group Donors