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Major categories of inherited metabolic diseases

There are more than 500 inherited metabolic diseases known today. Traditionally the inherited metabolic diseases were categorized as 

  1. Disorders of carbohydrate metabolism e.g, Galactosemia, Glycogen Storage Disease (GSD)
  2. Disorders of Protein metabolism
    1. Disorders of amino acid metabolism e.g., phenylketonuria
    2. Disorders of organic acid metabolism e.g, methylmalonic acidemias
    3. Urea cycle disorders e.g, Carbamyl phosphate synthetase (CPS) deficiency
  3. Disorders of fatty acid metabolism e.g., medium chain acyl dehydrogenase deficiency
  4. Disorders of mitochondrial function e.g., Kearns-Sayre syndrome
  5. Lysosomal storage disorders e.g., Gaucher’s disease
In recent decades hundreds of new inherited disorders of metabolism have been discovered and the categories have expanded. Following are some of the other classes of congenital metabolic diseases with prominent examples of each class. This is not an extensive list.
  • 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 peroxisomal function e.g., Zellweger syndrome
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