/sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
Rare Disease
MONDO:0014212
Also Known As
MOCOD type CMOCODCcombined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type Cmolybdenum cofactor deficiency Cmolybdenum cofactor deficiency complementation group Cmolybdenum cofactor deficiency, complementation group type Cmolybdenum cofactor deficiency type Cmolybdenum cofactor deficiency, complementation group C
Definition
A molybdenum cofactor deficiency that has material basis in homozygous mutation in the GPHN gene on chromosome 14q23.
Patient-Friendly Information
Comprehensive, easy-to-understand information about this condition