Molybdenum Cofactor Deficiency
Autoszomális recesszív
A condition caused by changes in both copies of MOCS1, MOCS2 or GPHN, which are needed to make the molybdenum cofactor used by sulfite oxidase and other enzymes.
Mit változtat a diagnózis
Fosdenopterin is an approved treatment for type A (MOCS1) and works best when started very early; carrier status is relevant to family planning.
Más néven
combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase; MOCOD
4 kapcsolódó altípust tartalmaz ↓Altípusok elrejtése ↑
- sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
- sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
- sulfite oxidase deficiency due to molybdenum cofactor deficiency type B2
- sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
