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.
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MOCS1 — Molybdenum cofactor synthesis 1, also known as MOCS1, is a human gene.cite web | title = Entrez Gene: MOCS1 molybdenum cofactor synthesis 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene Cmd=ShowDetailView TermToSearch=4337| accessdate … Wikipedia
MOCS2 — Molybdenum cofactor synthesis 2, also known as MOCS2, is a human gene.cite web | title = Entrez Gene: MOCS2 molybdenum cofactor synthesis 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene Cmd=ShowDetailView TermToSearch=4338| accessdate … Wikipedia
MOCS3 — Molybdenum cofactor synthesis 3, also known as MOCS3, is a human gene.cite web | title = Entrez Gene: MOCS3 molybdenum cofactor synthesis 3| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene Cmd=ShowDetailView TermToSearch=27304| accessdate … Wikipedia
