a disorder or defect of metabolism
a term that encompasses a variety of genetically based disorders that result from an inherited inability to produce a particular enzyme necessary for normal metabolism, specifically for the production or breakdown of proteins, fats, or carbohydrates
Disorders in which the production or breakdown of one or more specific chemical substance(s) within the body is abnormal due to a genetic alteration in a single enzyme.
A disturbance in the buildup, breakdown, or excretion of substances.
A condition in which normal metabolic processes are disrupted, usually because of a missing enzyme.
1. A condition or disease related to dysfunction in the chemical processes and activities of the body. 2. Defects in the body's ability to process substances and nutrients normally. Lack of treatment for people with metabolic errors will result in mental retardation and in some cases death. In many of these conditions the primary treatment is diet. These conditions are rare and should be treated at centers that specialize in these disorders. Also referred to as "inborn errors".
A metabolic disorder is a medical disorder which affects the production of energy within individual human (or animal) cells. Most metabolic disorders are genetic, though a few are "acquired" as a result of diet, toxins, infections, etc. Genetic metabolic disorders are also known as inborn errors of metabolism.