Inherited metabolic disorders

Overview

As the name suggests, Inherited metabolic disorders refer to different types of medical conditions caused by genetic defects — most commonly inherited from both parents — that interfere with the body’s metabolism (complex set of chemical reactions that the body uses to maintain life, including energy production).While inherited metabolic disorders are individually rare, they are collectively common. Single gene defects result in abnormalities in the synthesis or degradation of proteins, carbohydrates, or fats. Most are due to a defect in an enzyme or in a transport protein, resulting in a block in the way the compounds are processed by the body. Severe effects are due to the toxic accumulations of molecular debris. Special enzymes break down food or certain chemicals so that the body can use them right away for fuel or store them. Also, certain chemical processes break down substances that the body no longer needs, or make those it lacks.When these chemical processes don’t work properly due to a hormone or enzyme deficiency, a metabolic disorder occurs. Inherited metabolic disorders fall into different categories, depending on the specific substance and whether it builds up in harmful amounts (because it can’t be broken down), it’s too low, or it’s missing. Some 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.

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