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Inborn Errors of Metabolism

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