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Metabolic Diseases

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Definition: Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)  GEN: prefer specifics; TN 194: differentiate from DEFICIENCY DISEASES; DF: METAB DIS   
Examples Acid-Base Imbalance; Brain Diseases, Metabolic; Calcium Metabolism Disorders; DNA Repair-Deficiency Disorders; Glucose Metabolism Disorders; Iron Metabolism Disorders; Lipid Metabolism Disorders; Malabsorption Syndromes; Metabolic Syndrome X; Metabolism, Inborn Errors; Mitochondrial Diseases; Phosphorus Metabolism Disorders; Porphyrias; Proteostasis Deficiencies; Skin Diseases, Metabolic; Wasting Syndrome; Water-Electrolyte Imbalance 		Other names Thesaurismosis; Thesaurismoses; Metabolic Disease; Disease, Metabolic; Diseases, Metabolic
 
SubstanceCAS Registry & nameCategoriesSource
Hypermanganesemia with Dystonia Polycythemia and Cirrhosis  0   *Metabolic Diseases.
SHORT syndrome  0   *Growth Disorders *Hypercalcemia *Nephrocalcinosis *Metabolic Diseases.

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