Molybdenum co-factor deficiency: an easily missed inborn error of metabolism

Dev Med Child Neurol. 1988 Aug;30(4):531-5. doi: 10.1111/j.1469-8749.1988.tb04781.x.

Abstract

A female patient is described with combined deficiency of sulphite, zanthine and aldehyde oxidase. She presented at the age of four weeks with intractable seizures. Initially the diagnosis was suspected because of a very low serum urate level (23 mumol/1-1). This condition can be easily missed and it is proposed that measurement of serum urate be included in the metabolic assessment of neonates with unexplained seizures and developmental delay.

Publication types

  • Case Reports

MeSH terms

  • Aldehyde Oxidase
  • Aldehyde Oxidoreductases / deficiency
  • Chromosome Aberrations / genetics
  • Chromosome Disorders
  • Coenzymes*
  • Female
  • Genes, Recessive
  • Humans
  • Infant
  • Intellectual Disability / genetics*
  • Metalloproteins / deficiency*
  • Molybdenum Cofactors
  • Oxidoreductases Acting on Sulfur Group Donors / deficiency
  • Pteridines / deficiency*
  • Purine-Pyrimidine Metabolism, Inborn Errors / genetics*
  • Uric Acid / urine
  • Xanthine Oxidase / deficiency

Substances

  • Coenzymes
  • Metalloproteins
  • Molybdenum Cofactors
  • Pteridines
  • Uric Acid
  • molybdenum cofactor
  • Xanthine Oxidase
  • Aldehyde Oxidoreductases
  • Aldehyde Oxidase
  • Oxidoreductases Acting on Sulfur Group Donors