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Latest Methylmalonic acidemia Stories

2012-08-27 19:38:54

Vitamin B12 is essential to human health. However, some people have inherited conditions that leave them unable to process vitamin B12. As a result they are prone to serious health problems, including developmental delay, psychosis, stroke and dementia. An international research team recently discovered a new genetic disease related to vitamin B12 deficiency by identifying a gene that is vital to the transport of vitamin into the cells of the body. This discovery will help doctors better...

2010-10-26 07:00:00

SOUTH PLAINFIELD, N.J., Oct. 26 /PRNewswire/ -- PTC Therapeutics, Inc. today announced that it is expanding the development of ataluren, an investigational new drug, with the initiation of a Phase 2 clinical trial in nonsense mutation methylmalonic acidemia (nmMMA). MMA is a rare genetic disorder caused by deficiencies of crucial metabolic enzymes. Lack of these enzymes causes toxic levels of methylmalonic acid to accumulate in body fluids resulting in life-threatening metabolic...

2009-01-15 10:10:35

Scientists at the MUHC and McGill University have identified a gene essential for the uptake of vitamin B12 in human cells. The discovery of this gene finally completes a 24 year-old hunt for the cause of an incredibly rare genetic disorder called, cblF combined homocystinuria and methylmalonic aciduria (cblF-Hcy-MMA), first documented in a Quebec infant in 1985. The work, which was funded in part by the CIHR and involved collaboration among researchers in Canada, Germany, Switzerland and...


Word of the Day
omphalos
  • The navel or umbilicus.
  • In Greek archaeology: A central boss, as on a shield, a bowl, etc.
  • A sacred stone in the temple of Apollo at Delphi, believed by the Greeks to mark the 'navel' or exact center-point of the earth.
'Omphalos' comes from the ancient Greek.
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