Name two characteristics of inborn errors of metabolism.

What will be an ideal response?


Answers will vary.

They appear soon after birth. Such a disorder is suspected when otherwise physically well children develop a loss of appetite, vomiting, dehydration, physical weakness, or developmental delays soon after birth. For some of these conditions, infants are screened for the potential to have a specific inborn error of metabolism.

They are very specific, involving only 1 or a few enzymes. These enzymes usually 
participate in catabolic pathways (in which compounds are degraded).

No cure is possible, but typically the disorders can be controlled. The type of control 
depends on the inborn error-control might include reducing intake of the substance the individual is unable to metabolize normally, taking pharmacological doses of vitamins, and replacing a compound that cannot be synthesized.

Nutritional Science

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