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What Is Human Metabolic Disease?

Metabolism is the sum of processes by which the body produces energy, uses energy sources and handles different substances. The Mayo Clinic estimates that 1 in every 4,000 individuals suffers from a human metabolic disease.

  1. Definition

    • In a human metabolic disease, the body cannot properly convert specific major foodstuffs into energy; convert food into final products or building blocks for cells and tissues, or degrade waste products.

    Causes

    • While some metabolic disorders can result from diet, toxins or infections, most human metabolic diseases are genetic (inborn). They often manifest because gene defects inherited from both parents result in missing or improperly constructed enzymes, which have important roles in body metabolism.

    Types

    • About 1,000 inborn errors of metabolism have been identified to date. Most of them are defects in the processing of carbohydrates, protein components or fats, but they can also be defects in mitochondria (the "power plants" of body cells).

    Function

    • Children born with metabolic disorders usually look normal at birth, but quickly fall behind in their physical and mental development. Human metabolic disease often makes it hard for the body to maintain normal levels of acidity, which may lead to fatigue, nausea, vomiting irritability, weakness and cramping. Metabolic disease can also cause accelerated and deep breathing, confusion, headaches, seizures, organ failure, coma or even death.

    Examples

    • A few examples of human metabolic diseases are Tay-Sachs disease, leukodystrophies, albinism and diabetes. In Tay-Sachs disease, a missing enzyme causes the accumulation of a fatty substance in the nervous system. Leukodystrophies involve malfunctions of the brain, spinal cord and peripheral nerves. A person with albinism does not make enough pigment for the skin, hair and eyes, while in diabetes, blood-sugar levels are abnormal because the body, either does not make enough insulin or does not properly respond to it.

    Screening & Treatment

    • Prenatal and newborn screening are available for several human metabolic diseases. Diagnostic tests often include muscle or skin biopsy and blood tests. Some human metabolic diseases are treatable, and gene-replacement therapies are being researched for non-treatable disorders.

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