Molybdenum cofactor deficiency

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ogheneochuko Ajari, MB.BS, MS [2]

Overview[edit | edit source]

Molybdenum cofactor deficiency is a rare human disease in which the absence of molybdenum cofactor leads to accumulation of toxic levels of sulphite and neurological damage. Usually this leads 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.

Pathophysiology[edit | edit source]

Molybdenum cofactor deficiency is caused by a mutation in the MOCS1 gene of the type A variant. It can also be caused by a mutation in the MOCS2 gene or the GEPH gene.^[1]

Epidemiology and Demographics[edit | edit source]

As of 2010, there had been approximately 132 reported cases.^[2]

Differentiating Molybdenum cofactor deficiency from other Diseases[edit | edit source]

It should not be confused with molybdenum deficiency.

Diagnosis[edit | edit source]

History and Symptoms[edit | edit source]

• Early seizures

Laboratory Findings[edit | edit source]

• Low blood levels of uric acid
• High levels of sulphite, xanthine, and uric acid in urine

MRI[edit | edit source]

The disease produces characteristic MRI images that can aid in diagnosis.

Treatment[edit | edit source]

In 2009, Monash Children's Hospital at Southern Health in Melbourne, Australia reported that a patient known as Baby Z became the first person to be successfully treated for molybdenum cofactor deficiency type A. The patient was treated with cPMP, a precursor of the molybdenum cofactor.^[3][4] Baby Z will require daily injections of cyclic pyranopterin monophosphate (cPMP) for the rest of her life.^[5]

Related Chapter[edit | edit source]

• Sulfite oxidase

References[edit | edit source]

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