Molybdenum cofactor deficiency

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Molybdenum cofactor deficiency
Classification and external resources
OMIM 252150
DiseasesDB 29821
eMedicine ped/2172

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.

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 or the GEPH gene.[1] As of 2010, there had been approximately 132 reported cases.[2]

It should not be confused with molybdenum deficiency.

Diagnosis[edit]

Diagnosis of Molybdenum cofactor deficiency includes early seizures, low blood levels of uric acid, and high levels of sulphite, xanthine, and uric acid in urine. Additionally, the disease produces characteristic MRI images that can aid in diagnosis.[3]

Breakthrough[edit]

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

See also[edit]

References[edit]

  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. Retrieved November 5, 2009. 
  5. ^ Samantha Donovan (2009-11-05). "Dying baby cured in world first". abc.net.au/news (Australian Broadcasting Corporation). Retrieved 2009-11-05. 
  6. ^ Tedmanson, Sophie (November 5, 2009). "Doctors risk untried drug to stop babys brain dissolving". The Times (London). Retrieved May 13, 2010.