Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
Definition
A molybdenum cofactor deficiency that has material basis in homozygous mutation in the GPHN gene on chromosome 14q23.
Also known as combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C, MOCOD type C, MOCODC, molybdenum cofactor deficiency C, molybdenum cofactor deficiency, complementation group type C — per MONDO