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Latest Inborn errors of metabolism Stories

2012-02-13 23:17:58

In medical research, finding a reliable and cost-effective animal model can greatly enhance success in identifying disease mechanisms and genetic pathways, potentially cutting years off drug testing regimes and development of new treatment strategies. Now, University of Massachusetts Amherst neuroscientist Gerald Downes and colleagues have developed just such a model, a mutant zebrafish, to study Maple Syrup Urine Disease (MSUD). It is an inherited metabolic disorder that causes affected...

2012-01-09 17:32:42

The main symptom of Rotor syndrome is jaundice caused by a buildup of a substance known as conjugated bilirubin. Bilirubin is a yellow substance generated in large quantities when the body recycles red blood cells. It is conjugated in the liver to make it soluble in water so that it can be cleared from the body. Although Rotor syndrome is known to be a genetic disorder, it is not known which genes are involved. However, a team of researchers – led by Alfred Schinkel, at The Netherlands...

2011-10-03 12:45:33

Researchers at the Swedish medical university Karolinska Institutet have discovered a new inherited disorder that causes severe mental retardation and liver dysfunction. The disease, adenosine kinase deficiency, is caused by mutations in the ADK gene, which codes for the enzyme adenosine kinase. The findings, which are presented in the American Journal of Human Genetics, were made possible through the detailed biochemical examination of a Swedish family in which two children suffered from...

Excessive Body Odor May Be Caused By Genetic Disorder
2011-09-15 08:40:57

  Researchers from Monell Chemical Senses Center in Philadelphia are reporting that people with unexplained body odor issues may be suffering from a metabolic disorder, trimethylaminuria (TMAU) or “fish-odor syndrome”. TMAU is a genetically-transmitted disease that inhibits the ability of an enzyme to metabolize or transform trimethylamine (TMA) and is not based on lack of hygiene or personal care. Instead, the condition becomes apparent when sufferers digest foods rich...

2011-09-01 16:40:08

Just as we must take out the trash to keep our homes clean and safe, it is essential that our cells have mechanisms for dealing with wastes and worn-out proteins. When these processes are not working properly, unwanted debris builds up in the cell and creates a toxic environment. Now, a new study published by Cell Press on September 1st in the journal Developmental Cell describes a master regulator of the intracellular recycling and waste removal process and suggests an alternative strategy...

2011-07-28 15:05:00

NOVATO, Calif., July 28, 2011 /PRNewswire/ -- BioMarin Pharmaceutical Inc. (Nasdaq: BMRN) today announced an update on the GALNS Phase 1/2 extension study (MOR-100) in which patients have continued treatment on an ongoing basis. Patients originally enrolled in the initial Phase 1/2 study of GALNS (MOR-002) were continued on therapy in a new extension study (MOR-100). In the MOR-100 study, patients were treated at a 2.0 mg/kg/week dose and have been followed for an additional 24 weeks....


Word of the Day
omadhaun
  • A fool; a simpleton: a term of abuse common in Ireland and to a less extent in the Gaelic-speaking parts of Scotland.
This word is partly Irish in origin.