Molybdenum cofactor deficiency
Molybdenum cofactor deficiency | |
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Other names | Sulfite oxidase deficiency due to molybdenum cofactor deficiency |
Specialty | Medical genetics |
Molybdenum cofactor deficiency is a rare human disease in which the absence of
Cause
When caused by a mutation in the
It should not be confused with molybdenum deficiency.
Diagnosis
Diagnosis of molybdenum cofactor deficiency includes early seizures, low blood levels of
Infants with molybdenum cofactor deficiency may also experience increased or decreased muscle tone, difficulty feeding, abnormally high fussiness, exaggerated startle, microcephaly, coarse facial features, and eye lens dislocation.[4]
Treatment
Trials of an experimental treatment are going on at several sites in the US. https://www.centerwatch.com/clinical-trials/listings/84057/molybdenum-cofactor-deficiency-type-a-study-alxn1101-neonates-molybdenum/
On 26 February 2021, the U.S. Food and Drug Administration approved fosdenopterin (Nulibry) for intravenous injection to reduce the risk of death due to Molybdenum Cofactor Deficiency Type A.[5] Fosdenopterin replaces the missing cyclic pyranopterin monophosphate (cPMP).[5]
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,
See also
References
- S2CID 41013043.
- S2CID 40601679.
- ^ "Molybdenum cofactor deficiency in humans: Neurological consequences of sulfite oxidase deficiency". Archived from the original on 2008-10-11. Retrieved 2009-11-08.[full citation needed]
- ^ Rathore, Geetanjali. "Molybdenum Cofactor Deficiency (MoCD) Type A". Child Neurology Foundation. Retrieved 20 January 2023.
- ^ a b "FDA Approves First Treatment for Molybdenum Cofactor Deficiency Type A". U.S. Food and Drug Administration (FDA) (Press release). 26 February 2021. Retrieved 26 February 2021.
This article incorporates text from this source, which is in the public domain.
- ^ McArthur, Grant (November 5, 2009). "Doctor cures 'Baby Z' of molybdenum cofactor deficiency in medical world first". news.com.au. Retrieved November 5, 2009.
- ^ Samantha Donovan (2009-11-05). "Dying baby cured in world first". abc.net.au/news. Australian Broadcasting Corporation. Retrieved 2009-11-05.
- ^ Tedmanson, Sophie (November 5, 2009). "Doctors risk untried drug to stop baby's brain dissolving". The Times. London. Retrieved May 13, 2010.[dead link]