molybdenum cofactor deficiency type B

molybdenum cofactor deficiency type B

An autosomal recessive condition (OMIM:252150) caused by a lack of molybdoenzyme activity and characterised by severe neurologic damage, neonatal seizures and death in infancy.

Molecular pathology
Defects in MOCS2, which encodes the catalytic subunit of the molybdopterin synthase complex, cause molybdenum cofactor deficiency type B.