Symbol
| MOCODA
|
Location
| 6p21.2
|
Name
|
molybdenum cofactor deficiency, type A |
Other name(s)
|
sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase, combined deficiency of |
Corresponding gene
|
MOCS1
|
Other symbol(s)
| MOCOD, MOCS1
|
Main clinical features
|
fatal disorder characterized by severe seizures, profound neurological abnormalities, facial dysmorphism and a combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase |
Genetic determination
| autosomal recessive |
Function/system disorder
| metabolism/metal |
Type
| disease
|