Molybdenum cofactor deficiency (MOCOD) is a rare autosomal recessive disorder that leads to early childhood death. Mutations have been identified in three genes: MOCS1, MOCS2, and GEPH. These mutations result in the simultaneous loss of all MoCo-dependent enzyme activities, that include sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase. MOCOD results in neonatal seizures and other neurological symptoms identical to those of sulfite oxidase deficiency [DS:H01237].
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C50 Inborn errors of amino acid or other organic acid metabolism
H02311 Molybdenum cofactor deficiency
Pathway-based classification of diseases [BR:br08402]
Cofactor/vitamin metabolism
nt06025 Molybdenum cofactor biosynthesis
H02311 Molybdenum cofactor deficiency
Cellular process
nt06544 Neuroactive ligand signaling
H02311 Molybdenum cofactor deficiency
