Major Categories of Inherited Metabolic Diseases
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. Many others do not fall into these categories. ICD-10 codes are provided where available.
- 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
- Urea Cycle Disorder or Urea Cycle Defects
- E.g., Carbamoyl phosphate synthetase I deficiency
- Disorders of organic acid metabolism (organic acidurias)
- E.g., alcaptonuria
- Disorders of fatty acid oxidation and mitochondrial metabolism
- E.g., Medium-chain acyl-coenzyme A dehydrogenase deficiency (often shortened to MCADD.)
- 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., lipoid congenital adrenal hyperplasia, 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
- E.g., Niemann Pick disease
Read more about this topic: Inborn Error Of Metabolism
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