7 doctors weighed in:

What is treatment for inborn errors of metabolism?

7 doctors weighed in
David Miller
Family Medicine
3 doctors agree

In brief: 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.

In brief: 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.
David Miller
David Miller
Answer assisted by David Miller, Medical Student
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Dr. James Ferguson
Pediatrics
1 doctor agrees

In brief: 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.

In brief: 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.
Dr. James Ferguson
Dr. James Ferguson
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Dr. James Shoemaker
General Practice

In brief: 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.

In brief: 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 Shoemaker
Dr. James Shoemaker
Thank
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