Term Name: molybdenum cofactor deficiency
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 )

Relationships
is a type of: metal metabolism disorder
has subtype: molybdenum cofactor deficiency type A molybdenum cofactor deficiency type B molybdenum cofactor deficiency type C