Metabolic disorder

A disease that disrupts the chemical reactions by which the body obtains energy, builds or breaks down substances, or regulates metabolism.

Metabolism: The network of chemical reactions that sustains life by transforming matter and energy. This broader process is disrupted in every metabolic disorder.
Inborn errors of metabolism: Inherited diseases caused by defects in enzymes, transporters, or other components of metabolic pathways. This group shows how a single inherited defect can disrupt a metabolic pathway.
Newborn screening: Testing newborns for selected conditions before symptoms appear, often using a blood sample. Screening can detect treatable inherited metabolic disorders early.
Phenylketonuria: An inherited disorder in which impaired phenylalanine breakdown can damage the developing nervous system. It illustrates how early dietary treatment can prevent severe consequences of a metabolic defect.
Endocrine disorder: A disease involving hormone-producing glands or hormone action. Endocrine disorders can cause metabolic disease, but the categories are not identical.
Metabolic pathway: A sequence of chemical reactions in which each step transforms a molecule into another. A disorder can interrupt a pathway by impairing one of its steps.
Insulin resistance: A reduced response of cells to insulin, which impairs glucose regulation and other metabolic effects. It is a common mechanism behind type 2 diabetes and related metabolic changes.
Tandem mass spectrometry: An analytical method that identifies and quantifies molecules by measuring their mass-to-charge ratios in two stages. It can detect characteristic metabolite patterns in newborn screening.
Maple syrup urine disease: An inherited disorder that impairs breakdown of the branched-chain amino acids leucine, isoleucine, and valine. Its characteristic pathway defect can cause dangerous metabolite accumulation.
Nutritional disorder: A disease caused or worsened by insufficient, excessive, or imbalanced nutrient intake. Nutrient imbalance can disrupt metabolism without an intrinsic metabolic defect.

Linked from 1 page