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Inborn Errors of Metabolism

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What do you mean by Inborn Errors of Metabolism?

Inborn Errors of Metabolism are rare genetic disorders in which your body loses its tendency to properly turn food into energy. This usually happens due to the defects in specific proteins, known as enzymes, that help break down parts of food. When food is not broken down into energy, it gets accumulated in the body resulting in developmental delays or other medical problems.

Some Inborn Errors of Metabolism are:

Fructose intolerance

Galactosemia

Maple sugar urine disease

Phenylketonuria

Albinism

Thyroid disease

What causes Inborn Errors of Metabolism?

Inborn Errors of Metabolism are mainly caused due to the mutations in genes that tell our cells how to make enzymes and the co-factors of metabolism. These altered genes can be inherited from parents or also spontaneously.

What are the symptoms of Inborn Errors of Metabolism?

The most common symptoms of Inborn Errors of Metabolism are:

Developmental delays

Growth failure

Delayed puberty

Deafness or blindness

Lethargy

Poor feeding

Apnea

Tachypnea

Recurrent vomiting

Dental abnormalities

Heart problems

Joint pain/muscle weakness

How can Inborn Errors of Metabolism be treated?

The treatment for Inborn Errors of Metabolism depends on the underlying cause. The main goal is to eliminate the build-up of toxic metabolites and this can be achieved through Special modified diets, Dietary supplementation, and Vitamins. Other therapies include:

Dialysis

Enzyme replacement

Gene therapy

Bone marrow or organ transplantation

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Inborn Errors of Metabolism

What do you mean by Inborn Errors of Metabolism?

What causes Inborn Errors of Metabolism?

What are the symptoms of Inborn Errors of Metabolism?

How can Inborn Errors of Metabolism be treated?