molybdenum cofactor deficiency type A

info · Genetic

A molybdenum cofactor deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MOCS1 gene on chromosome 6p21.

Signs and symptoms

Long philtrum
Seizure
Decreased urinary urate
Increased urinary hypoxanthine level
Molybdenum cofactor deficiency
Short nose
Abnormal muscle tone
Nystagmus
Thick vermilion border
Absent urinary urothione

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