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Metabolic Disorders
Metabolic Disorders

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.

 

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

 

Traditionally the inherited metabolic diseases were categorized as disorders of carbohydrate metabolism, amino acid metabolism, organic acid metabolism, or lysosomal storage diseases. In recent decades, hundreds of new inherited disorders of metabolism have been discovered and the categories have proliferated. Following are some of the major classes of congenital metabolic diseases, with prominent examples of each class..

  • Disorders of carbohydrate metabolism
    • E.g., glycogen storage disease
  • Disorders of amino acid metabolism
    • E.g., phenylketonuria maple syrup urine disease, glutaric acidemia type 1
  • Disorders of organic acid metabolism (organic acidurias)
    • E.g., alcaptonuria
  • Disorders of fatty acid oxidation and mitochondrial metabolism
    • E.g., medium chain acyl dehydrogenase deficiency (glutaric acidemia type 2)
  • Disorders of porphyrin metabolism
    • E.g., acute intermittent porphyria
  • Disorders of purine or pyrimidine metabolism
    • E.g., Lesch-Nyhan syndrome
  • Disorders of steroid metabolism
    • E.g., congenital adrenal hyperplasia
  • Disorders of mitochondrial function
    • E.g., Kearns-Sayre syndrome
  • Disorders of peroxisomal function
    • E.g., Zellweger syndrome
  • Lysosomal storage disorders
    • E.g., Gaucher's disease
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