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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Inborn Errors of Metabolism(IEM)Lecture 1
December 18 2012
Index of suspicion
IEM associated with abnormal Urine odor
Genetic Characteristic & Mode of Inheritance
Small molecule disease
Amino acid /Protein
Organic refer to amino acids and certain odd-chained fatty acids.
Clinical presentationsOrganic Acidemia,
2. Maple syrup urine disease
-If untreated, will lead to death, coma, neurological decline
3. Urea Cycle Defects.
Clinical Findings in Urea Cycle Defects
Clinical features of PKU
• Mental retardation
• Skeletal abnormalities