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
 

 

 

Acute Encephalopathy   

Acute encephalopathy presents in a number of neurometabolic disorders, particularly in children. Major inherited metabolic disorders that can cause acute encephalopathy include disorders of amino acid metabolism (maple syrup urine disease, urea cycle disorders, and nonketotic hyperglycinemia), organic acidemias, fatty acid oxidation defects and mitochondrial respiratory chain defects. Because of the importance of identifying treatable neurometabolic disorders, initial investigation of any patient presenting clinically in a stuperous or obtunded state should not be delayed. [Table 1] gives a summary of the expected results of the initial laboratory studies in various neurometabolic disorders presenting as acute encephalopathy.

SOURCE. http://www.annalsofian.org/article.aspissn=0972 2327;year=2008;volume=11;issue=2;spage=68;epage=81;aulast=Christopher
Dr Archibald Edward Garrod

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