GTR Home > Conditions/Phenotypes > Combined molybdoflavoprotein enzyme deficiency

Summary

Molybdenum cofactor deficiency (MOCOD) is a rare autosomal recessive metabolic disorder characterized by onset in infancy of poor feeding, intractable seizures, and severe psychomotor retardation. Characteristic biochemical abnormalities include decreased serum uric acid and increased urine sulfite levels due to the combined enzymatic deficiency of xanthine dehydrogenase (XDH; 607633) and sulfite oxidase (SUOX; 606887), both of which use molybdenum as a cofactor. Most affected individuals die in early childhood (summary by Reiss, 2000; Reiss et al., 2011). Genetic Heterogeneity of Molybdenum Cofactor Deficiency See also MOCOD, complementation group B (MOCODB; 252160), caused by mutation in the MOCS2 gene (602708) on chromosome 5q11; and MOCOD, complementation group C (MOCODC; 615501), caused by mutation in the GPHN gene (603930) on chromosome 14q24. [from OMIM]

Available tests

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Associated genes

Clinical features

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  • Axonal loss
  • Long face
  • Intellectual disability
  • Microcephaly
  • Increased urinary sulfite
  • Decreased urinary sulfate
  • Hypoplasia of the corpus callosum
  • Long philtrum
  • Full cheeks
  • Seizure
  • Nystagmus
  • Macrocephaly
  • Feeding difficulties in infancy
  • Hypertelorism
  • Xanthine nephrolithiasis
  • Ectopia lentis
  • Spastic tetraparesis
  • Growth delay
  • Frontal bossing
  • Cerebral atrophy
  • Ventriculomegaly
  • Gliosis
  • Opisthotonus
  • Spastic tetraplegia
  • Aldehyde oxidase deficiency
  • Increased urinary taurine
  • Short nose
  • Reduced xanthine dehydrogenase activity
  • Hypouricemia
  • Molybdenum cofactor deficiency
  • Absent urinary urothione
  • Sulfite oxidase deficiency
  • Myoclonic spasms
  • Abnormal muscle tone
  • Xanthinuria
  • Peripheral demyelination
  • Increased urinary hypoxanthine
  • Decreased urinary urate
  • Increased urinary thiosulfate
  • Thick vermilion border
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