Molybdenum cofactor deficiency

Molybdenum cofactor deficiency
Classification and external resources
OMIM	252150
DiseasesDB	29905
eMedicine	ped/2172

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.^[1]

It should not be confused with molybdenum deficiency.

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

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.^[3]

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.^[4][5] Baby Z will require daily injections of cyclic pyranopterin monophosphate (cPMP) for the rest of her life.^[6]

See also

• sulfite oxidase

References

1. ^ http://www.ncbi.nlm.nih.gov/pubmed/12754701 "Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH."
2. ^ Ichida K, Aydin HI, Hosoyamada M, et al. (2006). "A Turkish case with molybdenum cofactor deficiency". Nucleosides Nucleotides Nucleic Acids 25 (9-11): 1087–91. doi:10.1080/15257770600894022. PMID 17065069. 
3. ^ http://www.imoa.info/HSE/environmental_data/biology/molybdenum_cofactor.html
4. ^ McArthur, Grant (November 5, 2009). "Doctor cures 'Baby Z' of molybdenum cofactor deficiency in medical world first". news.com.au. http://www.news.com.au/story/0,27574,26307721-421,00.html. Retrieved November 5, 2009. 
5. ^ Samantha Donovan (2009-11-05). "Dying baby cured in world first". abc.net.au/news (Australian Broadcasting Corporation). http://www.abc.net.au/news/stories/2009/11/05/2734004.htm. Retrieved 2009-11-05. 
6. ^ Tedmanson, Sophie (November 5, 2009). "Doctors risk untried drug to stop babys brain dissolving". The Times (London). http://www.timesonline.co.uk/tol/life_and_style/health/article6903996.ece. Retrieved May 13, 2010.