Focus on: Inherited Metabolic Disorders (Page

What are Inherited Metabolic Disorders?

Inherited metabolic disorders (IMDs) are genetic conditions that result in metabolism problems. Most people with IMDs have a defective gene that results in an enzyme deficiency.

How are Inherited Metabolic Disorders diagnosed?

Some Inherited Metabolic Disorders can be diagnosed by routine screening tests done at birth. Others are identified only after a child or adult shows symptoms of a disorder.

How are Inherited Metabolic Disorders treated?

Treatment for an IMD depends on the type and severity of the disorder. Treatment recommendations may vary considerably, from dietary restrictions to liver transplants.

What is a Metabolic Crisis?

A clinical state where toxic compounds accumulate to unusually high levels.Without treatment, a metabolic crisis can cause serious harm to the patient. These can be fatal if left untreated. (These are only a feature of some IMDs)*

Why do Metabolic Crises occur?

Metabolic Crises can be triggered by a multitude of factors. They are often triggered by illness or infection, going without food for a long time, and, in some cases, heavy exercise. (These are only a feature of some IMDs)*