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Under normal conditions a metabolic pathway is a result of sequence of enzyme activities that lead to synthesis or degradation of molecules needed to build certain structures or deliver a certain function in our bodies. In some cases individuals are born with defective enzymes or lacking an enzyme that is part of the metabolic pathway. This will result in certain types of diseases known as inborn errors of metabolism (IEM).
The following IEM’s have been identified diseases in lipid and amino acids metabolism
1. Medium-chain-acyl-CoA dehydrogenase deficiency (MCAD)
2. Hereditary Tyrosinemia
3. Maple syrup urine disease
4. Ornithine Transcarbamylase deficiency
5. Arginosuccinic Aciduria
6. Transient Hyperammonemia of the newborn
For each of the above IEM;
� Identify the metabolic bases of the disease
� Identify the major symptom of the disease
� Describe the major approach for nutrition treatment of the disease
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