Inborn Errors of Metabolism(IEM) Lecture 1. SDK December 18 2012. Objectives. Define Inborn error of metabolism Identify the most common errors Explains the mechanism of Inborn error of metabolism. Explain the dietary plan for IEM. Inborn Errors of Metabolism.
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December 18 2012
Index of suspicion
IEM associated with abnormal Urine odor
Amino acid /Protein
CytoplasmClassification of diseases due to IEM
Organic refer to amino acids and certain odd-chained fatty acids.
Clinical presentationsOrganic Acidemia,
-If untreated, will lead to death, coma, neurological decline
3. Urea Cycle Defects.
• Mental retardation
• Skeletal abnormalities