molybdenum cofactor deficiency


molybdenum cofactor deficiency
an autosomal recessive disorder in which mutations in any of three genes encoding enzymes necessary for the synthesis of molybdenum cofactor cause deficiency of the molybdoenzymes sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase, resulting in severe neurologic abnormalities, dislocated ocular lenses, mental retardation, xanthinuria, and early death. It is divided into three types according to the site of mutation: A (MOCS1, locus: 6p21.3), B (MOCS2, locus: 5q11), and C (GPHN, locus:14q24).

Medical dictionary. 2011.