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molybdenum cofactor deficiency


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A molybdenum-containing cofactor is essential to the function of sulphite oxidase, xanthine dehydrogenase, and aldehyde oxidase; deficiency leads to severe neurological damage and death in early childhood. Three distinct complementation groups exist: type A with defective products of the MOCS1 locus, type B with defective molybdopterin synthase (MOCS2) and a third complementation group (C) with defects in gephyrin. See xanthinuria.

Subjects: Chemistry — Medicine and Health.


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