Useful Info
Current Treatment Strategies(IEM)   

There are a number of strategies available to treat inherited metabolic diseases and these are often related to whether the clinical symptoms are caused by accumulation or depletion.
 
 
1. Reducing Substrate Accumulation by manipulation of diet, chelationor inhibition of biosynthesis.
 
 
2. Reducing toxic metabolites by decreasing production, facilitating transport or promoting excretion
 
 
3. Enhancing residual activity by supraphysiologicaldoses of cofactors and their precursors
 
 
4. Replacement of the defective enzyme by the administration of exogenous enzyme (Enzyme Replacement Therapy, ERT) or by transplantation.
 
 
5. Supplementation of a depleted metabolite by diet or by medication.
 
 
source.http://www.metbio.net/docs/MetBio-TrainingDoc-HAHU926635-17-08-2010.pdf
 

 

 

Did You know?    

Every 30 minutes, a child is born who will develop a mitochondrial disease by age 10. Each year, 1000 to 4000 children in the United states are born with a mitochondrial disease.   While exact numbers of children and adults suffering from mitochondrial disease are hard to determine because so many people who suffer from mitochondrial disease are frequently misdiagnosed, we now know the disease is approaching the frequency of childhood cancers.  Many are misdiagnosed with atypical cerebral palsy, various seizure disorders, childhood diseases and diseases of aging.  Still others arent diagnosed until after death.

Mitochondrial Disease
 
Mitochondrial diseases result from failures of the mitochondria, specialized compartments present in every cell of the body except red blood cells. Mitochondria are responsible for creating more than 90% of the energy needed by the body to sustain life and support growth. When they fail, less and less energy is generated within the cell. Cell injury and even cell death follow. If this process is repeated throughout the body, whole systems begin to fail, and the life of the person in whom this is happening is severely compromised. The disease primarily affects children, but adult onset is becoming more and more common.


source= The United Mitochondrial Disease Foundation

Pittsburgh(usa)

Dr Archibald Edward Garrod

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