Term Name: | molybdenum cofactor deficiency |
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Synonyms: | combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase, MOCOD |
Definition: | A metal metabolism disease characterized by encephalopathy that worsens over time resulting from the absence of molybdenum cofactor which leads to accumulation of toxic levels of sulphite and neurological damage. |
Ontology: | Human Disease [DOID:0111165] ( DOID:0111165 ) |