Everything about Metabolic Disease totally explained
A
metabolic disorder is a medical disorder which affects the production of
energy within individual 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.
In general, the genetic
metabolic disorders are caused by genetic defects that result in missing or improperly constructed
enzymes necessary for some step in the metabolic process of the cell.
The largest classes of
metabolic disorders are:
- Disorders of carbohydrate metabolism
- Disorders of amino acid metabolism
- Disorders of organic acid metabolism (organic acidurias)
- Disorders of fatty acid oxidation and mitochondrial metabolism
- Disorders of porphyrin metabolism
- Disorders of purine or pyrimidine metabolism
- Disorders of steroid metabolism
- Disorders of mitochondrial function
- Disorders of peroxisomal function
- Lysosomal storage disorders
(for further details, see inborn errors of metabolism)
A fourth class, the
channelopathies (some of which cause
periodic paralysis and/or
malignant hyperthermia) could be considered to be
metabolic disorders as well, though they're not always classified as such. These disorders affect the
ion channels in the cell and
organelle membranes, resulting in improper or inefficient transfer of
ions through the membranes.
There are also a number of other
metabolic disorders (such as
myoadenylate deaminase deficiency) which don't cleanly fit into any of the above classifications.
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