molybdenum cofactor deficiency type B

info · Genetic

A molybdenum cofactor deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MOCS2 gene on chromosome 5q11.

Signs and symptoms

Bilateral tonic-clonic seizure
Decreased urinary urate
Hypotonia
Thin corpus callosum
Nystagmus
Irritability
Opisthotonus
Microcephaly
Spastic tetraplegia
Feeding difficulties

Also known as: MOCOD type B; MOCODB; combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type B; molybdenum cofactor deficiency complementation group B; molybdenum cofactor deficiency type B1