molybdenum cofactor deficiency—complementation group A

Home » Classic Medicine » Syndromes » molybdenum cofactor deficiency—complementation group A
molybdenum cofactor deficiency—complementation group A2016-11-27T08:05:22+00:00

molybdenum cofactor deficiency—complementation group A 

METABOLISM, NEUROLOGY

An autosomal recessive condition (OMIM:252150), characterised by poor feeding, intractable seizures, and severe psychomotor retardation.

Biochemical findings Decreased serum uric acid and increased urine sulfite due to the combined enzymatic deficiency of xanthine dehydrogenase (XDH, OMIM:607633) and sulfite oxidase (SUOX, OMIM:606887), both of which use molybdenum as a cofactor.

Molecular pathology Defects of MOCS1, which encodes a protein involved in the conserved molybdenum cofactor synthetic pathway leading to activation of molybdenum, cause molybdenum cofactor deficiency—complementation group A.

Also known as MOCODA

References http://www.omim.org/entry/252150

http://www.uniprot.org/uniprot/Q9NZB8

Leave A Comment

This site uses Akismet to reduce spam. Learn how your comment data is processed.