molybdenum cofactor deficiency—complementation group A
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