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(New page: {{BioPsy}} There are a large number of '''metabolism disorders''', physical disorders caused by the malfunctioning of metabolism within the body. Many of these are associated with ...)
 
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{{BioPsy}}
  
{{BioPsy}}
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There are a large number of '''metabolism disorders''', [[physical disorders]] caused by the malfunctioning of [[metabolism]] within the body. Many of these are associated with psychological effects or interfere with psychological processing. These would include:
  
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A '''metabolic disorder''' is a medical disorder which affects the production of [[energy]] within individual human (or animal) [[cell (biology)|cells]]. Most ''metabolic disorders'' are [[genetic disorders|genetic]], though a few are "acquired" as a result of diet, [[toxin]]s, [[infection]]s, etc. Genetic metabolic disorders are also known as [[inborn errors of metabolism]].
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In general, the genetic ''metabolic disorders'' are caused by genetic defects that result in missing or improperly constructed [[enzyme]]s necessary for some step in the metabolic process of the cell.
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The three largest classes of ''metabolic disorders'' are:
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* [[Glycogen storage disease]]s -- disorders affecting [[carbohydrate]] metabolism
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* [[Fatty oxidation disorder]]s -- disorders affecting the metabolism of fat components
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* [[Mitochondrial disorder]]s -- disorders affecting the [[mitochondria]] which are the central "powerhouses" of the cells.
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A fourth class, the [[channelopathy|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 channel]]s in the cell and [[organelle]] [[inner membrane|membrane]]s, resulting in improper or inefficient transfer of [[ion]]s through the membranes.
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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.
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Many of these are associated with psychological effects or interfere with psychological processing. These would include:
   
 
*[[Cushings syndrome]]
  
*[[Cushings syndrome]]
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*[[Hyperglycemia]]
  
*[[Hyperglycemia]]
 
*[[Hypoglycemia]]
  
*[[Hypoglycemia]]
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*[[Hypnotremia]]
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*[[Hyponatremia]]
 
*[[Lipid metabolism disorders]]
  
*[[Lipid metabolism disorders]]
 
*[[Phenylketonuria]]
  
*[[Phenylketonuria]]
 
*[[Porphria]]
  
*[[Porphria]]
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*[[Hypothyridism]]
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*[[Hypothyroidism]]
   
   
   
 
==See also==
  
==See also==
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*[[List of ICD-9 codes 240-279: Endocrine, nutritional and metabolic diseases, and immunity disorders]]
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*[[Metabolism]]
 
*[[Nutritional deficiencies]]
  
*[[Nutritional deficiencies]]
   
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{{Metabolism disorders}}
   
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[[Category:Metabolism disorders]]
 
[[Category:Physical disorders]]
  
[[Category:Physical disorders]]
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{{enWP|Metabolic disorder}}

Latest revision as of 16:31, 15 October 2011

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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:

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:


See also


v·d·e
Metabolic pathology / Inborn error of metabolism (E70-90, 270-279)
Amino acid

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

Carbohydrate

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

Lipid storage

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
Neuronal ceroid lipofuscinosis (Batten disease) - Cerebrotendineous xanthomatosis - Cholesteryl ester storage disease (Wolman disease)

Fatty acid metabolism

Lipoprotein/lipidemias: Hyperlipidemia - Hypercholesterolemia - Familial hypercholesterolemia - Xanthoma - Combined hyperlipidemia - Lecithin cholesterol acyltransferase deficiency - Tangier disease - Abetalipoproteinemia - Smith-Lemli-Opitz syndrome
Fatty acid: Adrenoleukodystrophy - Acyl-coA dehydrogenase (Short-chain, Medium-chain, Long-chain 3-hydroxy, Very long-chain) - Carnitine (Primary, I, II, -acylcarnitine) - Mitochondrial trifunctional protein deficiency

Mineral/Vitamin

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

Fluid, electrolyte
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

Porphyrin

Acute intermittent, Gunther's, Cutanea tarda, Erythropoietic, Hepatoerythropoietic, Hereditary copro-, Variegate

Bilirubin

Unconjugated (Lucey-Driscoll syndrome, Gilbert's syndrome, Crigler-Najjar syndrome) - Conjugated (Dubin-Johnson syndrome, Rotor syndrome)

Glycosaminoglycan

Mucopolysaccharidosis - 1:Hurler/Hunter - 3:Sanfilippo - 4:Morquio - 6:Maroteaux-Lamy - 7:Sly

Glycoprotein

Mucolipidosis - I-cell disease - Pseudo-Hurler polydystrophy - Aspartylglucosaminuria - Fucosidosis - Alpha-mannosidosis - Sialidosis

Other

Alpha 1-antitrypsin deficiency - Cystic fibrosis - Amyloidosis (Familial Mediterranean fever) - Acatalasia

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