molybdenum cofactor deficiency—complementation group C

METABOLISM, NEUROLOGY

An autosomal recessive condition (OMIM:615501) characterised by the pleiotropic loss of molybdoenzyme activities, resulting in infancy onset of poor feeding, intractable seizures, severe psychomotor retardation, and death in early childhood in most patients. 

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 GPHN, which encodes gephyrin, a neuronal assembly protein that anchors inhibitory neurotransmitter receptors to the postsynaptic cytoskeleton, cause molybdenum cofactor deficiency—complementation group C. 

References http://www.omim.org/entry/615501

http://www.uniprot.org/uniprot/Q9NQX3