Molybdenum cofactor deficiency

Molybdenum cofactor deficiency is a human disease. Absence of molybdenum cofactor leads to accumulation of toxic levels of sulphite and neurological damage usually leading to death within months of birth, due to the lack of active sulfite oxidase. Furthermore a mutational block in molybdenum cofactor biosynthesis causes absence of enyzme activity of xanthine dehydrogenase/oxidase and aldehyde oxidase.

When caused by a mutation in the MOCS1 gene it is the type A variant. It can also be caused by a mutation in the MOCS2 gene, and in the GEPH gene.

It should not be confused with molybdenum deficiency.

As of 2010, there had been approximately 132 reported cases.

Diagnosis
Early seizures, low blood levels of uric acid, and high levels of sulphite, xanthine and uric acid in urine. Characteristic MRI images of brain.

Breakthrough
In 2009, the first person to be cured of molybdenum cofactor deficiency type A, Baby Z has made world medical and legal history for Monash Children's at Southern Health in Melbourne, Australia. The patient was treated with cPMP, a precursor of the molybdenum cofactor. Baby Z will require daily injections of cyclic pyranopterin monophosphate (cPMP) for the rest of her life.