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A metabolic disorder is a medical disorder which affects the production of energy within individual human (or 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 three largest classes of metabolic disorders are:
- Glycogen storage diseases -- disorders affecting carbohydrate metabolism
- Fatty oxidation disorders -- disorders affecting the metabolism of fat components
- Mitochondrial disorders -- disorders affecting the mitochondria which are the central "powerhouses" of the cells.
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 are 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 do not cleanly fit into any of the above classifications.
Many of these are associated with psychological effects or interfere with psychological processing. These would include:
- Cushings syndrome
- Cystic fibrosis
- Lipid metabolism disorders
- List of ICD-9 codes 240-279: Endocrine, nutritional and metabolic diseases, and immunity disorders
- Nutritional deficiencies
Metabolic pathology / Inborn error of metabolism (E70-90, 270-279)
Aromatic (Phenylketonuria, Alkaptonuria, Ochronosis, Tyrosinemia, Albinism, Histidinemia) - Organic acidemias (Maple syrup urine disease, Propionic acidemia, Methylmalonic acidemia, Isovaleric acidemia, 3-Methylcrotonyl-CoA carboxylase deficiency) - Transport (Cystinuria, Cystinosis, Hartnup disease, Fanconi syndrome, Oculocerebrorenal syndrome, Lysinuric protein intolerance) - Sulfur (Homocystinuria, Cystathioninuria, Hawkinsinuria) - Urea cycle disorder (N-Acetylglutamate synthase deficiency, Carbamoyl phosphate synthetase I deficiency, Ornithine transcarbamylase deficiency, Citrullinemia, Argininosuccinic aciduria, Argininemia, Hyperammonemia) - Glutaric acidemia type 1 - Hyperprolinemia - Sarcosinemia - Other Trimethylaminuria - Tetrahydrobiopterin deficiency - Beta-ketothiolase deficiency
Lactose intolerance - Glycogen storage disease (type I, type II, type III, type IV, type V, type VI, type VII) - fructose metabolism (Fructose intolerance, Fructose bisphosphatase deficiency, Essential fructosuria) - galactose metabolism (Galactosemia, Galactose-1-phosphate uridylyltransferase galactosemia, Galactokinase deficiency) - other intestinal carbohydrate absorption (Glucose-galactose malabsorption, Sucrose intolerance) - pyruvate metabolism and gluconeogenesis (PCD, PDHA) -
Pentosuria - Renal glycosuria
Sphingolipidoses/Gangliosidoses: GM2 gangliosidoses (AB variant, Sandhoff disease, Tay-Sachs disease) - GM1 gangliosidoses - Mucolipidosis type IV - Gaucher's disease - Niemann-Pick disease - Farber disease - Fabry's disease - Metachromatic leukodystrophy - Krabbe disease
|Fatty acid metabolism||
Lipoprotein/lipidemias: Hyperlipidemia - Hypercholesterolemia - Familial hypercholesterolemia - Xanthoma - Combined hyperlipidemia - Lecithin cholesterol acyltransferase deficiency - Tangier disease - Abetalipoproteinemia - Smith-Lemli-Opitz syndrome
Cu Wilson's disease/Menkes disease - Fe Haemochromatosis, Aceruloplasminemia, Atransferrinemia - Zn Acrodermatitis enteropathica - PO43− Hypophosphatemia/Hypophosphatasia - Mg2+ Hypermagnesemia/Hypomagnesemia - Ca2+ Hypercalcaemia/Hypocalcaemia/Disorders of calcium metabolism - Biotin Biotinidase deficiency
and acid-base balance
Electrolyte disturbance - Na+ Hypernatremia/Hyponatremia - Acidosis (Metabolic, Respiratory, Lactic) - Alkalosis (Metabolic, Respiratory) - Mixed disorder of acid-base balance - H2O Dehydration/Hypervolemia - K+ Hypokalemia/Hyperkalemia - Cl− Hyperchloremia/Hypochloremia
|Purine and pyrimidine||
Dihydropyrimidine dehydrogenase deficiency - Hyperuricemia - Lesch-Nyhan syndrome - Purine nucleoside phosphorylase deficiency - Xanthinuria
Unconjugated (Lucey-Driscoll syndrome, Gilbert's syndrome, Crigler-Najjar syndrome) - Conjugated (Dubin-Johnson syndrome, Rotor syndrome)
Mucopolysaccharidosis - 1:Hurler/Hunter - 3:Sanfilippo - 4:Morquio - 6:Maroteaux-Lamy - 7:Sly
Mucolipidosis - I-cell disease - Pseudo-Hurler polydystrophy - Aspartylglucosaminuria - Fucosidosis - Alpha-mannosidosis - Sialidosis
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