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
 

 

 

During Gestation   

Several groups of inherited metabolic disorders, most notably the organic acidemias, urea cycle defects, and certain disorders of amino acid metabolism, typically present with acute life-threatening symptoms of an encephalopathy. These symptoms are the result of toxic effects of accumulating metabolites on the central nervous system (CNS). Because most of these metabolites cross the placenta and are cleared by the mother during gestation, affected infants usually appear normal at birth. The interval between birth and onset of clinical symptoms ranges from hours to months

source= Barbara K. Burton,MD  http://www.pediatricsdigest.mobi/content/102/6/e69.full

Dr Archibald Edward Garrod

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