Molybdenum cofactor deficiency

Molybdenum cofactor deficiency
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Synonyms	Sulfite oxidase deficiency due to molybdenum cofactor deficiency
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Field	Medical genetics
Symptoms
Complications
Onset
Duration
Types
Causes
Risks
Diagnosis
Differential diagnosis
Prevention
Treatment
Medication
Prognosis
Frequency
Deaths

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 enzyme activity of xanthine dehydrogenase/oxidase and aldehyde oxidase.

Cause

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.<ref>,

 Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH, 
 Human Mutation, 
 
 Vol. 21(Issue: 6),
 pp. 569–76,
 DOI: 10.1002/humu.10223,
 PMID: 12754701,</ref> As of 2010, there had been approximately 132 reported cases.<ref name="pmid17065069">, 
 A Turkish case with molybdenum cofactor deficiency, 
 Nucleosides, Nucleotides & Nucleic Acids, 
 2006,
 Vol. 25(Issue: 9–11),
 pp. 1087–91,
 DOI: 10.1080/15257770600894022,
 PMID: 17065069,</ref>

It should not be confused with molybdenum deficiency.

Diagnosis

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.<ref>

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Prevalence

The prevalence of Molybdenum co-factor deficiency is estimated as being between 1 in 100 000 and 1 in 200 000. To date more than 100 cases have been reported. However, this may significantly under represent cases.

Research

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.<ref name=news.com.au> McArthur, Grant,

 Doctor cures 'Baby Z' of molybdenum cofactor deficiency in medical world first Full text, 
 news.com.au, 
  
 November 5, 2009,

</ref><ref> Samantha Donovan,

 Dying baby cured in world first Full text, 
 abc.net.au/news, 
 Australian Broadcasting Corporation, 
 2009-11-05,

</ref> Baby Z will require daily injections of cyclic pyranopterin monophosphate (cPMP) for the rest of her life.<ref> Tedmanson, Sophie,

 Doctors risk untried drug to stop babys brain dissolving Full text, 
 The Times, 
  
 November 5, 2009, 
 London,

</ref>

See also

• Sulfite oxidase

External links

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