molybdenum cofactor deficiency—complementation group B

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molybdenum cofactor deficiency—complementation group B2016-11-27T08:13:00+00:00

molybdenum cofactor deficiency—complementation group B

METABOLISM, NEUROLOGY

An autosomal recessive condition (OMIM:252160) caused by a lack of molybdoenzyme activity and characterized by static encephalopathy, microcephaly, and dysmorphic features, spastic quadriparesis, opisthotonos, nystagmus, and irritability, variably accompanied by intractable seizures, opisthotonus, and facial dysmorphism.

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 MOCS2, which encodes a sulphur carrier required for molybdopterin biosynthesis, cause molybdenum cofactor deficiency—complementation group B. 

References http://www.omim.org/entry/252160

http://www.uniprot.org/uniprot/O96033

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