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A 41-year-old member asked:

What is treatment for inborn errors of metabolism?

3 doctor answers7 doctors weighed in
Dr. David Miller
Dr. David Milleranswered
Family Medicine 11 years experience
Depends: The list of diseases caused by an inborn error of metabolism is very long, indeed. Typically, the disease is caused by an enzyme deficiency. The treatment (assuming one exists) often centers around replacing this enzyme in some way. Otherwise you are left with just treating the symptoms to improve quality of life.
Dr. James Shoemaker
General Practice 41 years experience
I. V. Glucose: Most classical inborn errors are defects in the enzymes that break down amino acids, so stopping the body from breaking down its own proteins is an important goal of initial treatment--and this is done by giving intravenous glucose. This treatment also works for fatty acid oxidation defects that cause hypoglycemia. Low protein diets and vitamin supplements are also common treatments when well.
Dr. James Ferguson
Pediatrics 47 years experience
Bypass/replace/suprt: The list of these would fill many pages. For some (PKU,galactosemia) you bypass the problem with diet.For some (storage disease) you try to provide the missing enzyme. For the majority, you try to make like tolerable for the patient, because the defect is permanent and no cure is available.

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Last updated Jul 21, 2014

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