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(Index , Outline )
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:
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 - PO4 3− Hypophosphatemia /Hypophosphatasia - Mg2+ Hypermagnesemia /Hypomagnesemia - Ca2+ Hypercalcaemia /Hypocalcaemia /Disorders of calcium metabolism - Biotin Biotinidase deficiency
Fluid, electrolyte acid-base balance
Electrolyte disturbance - Na+ Hypernatremia /Hyponatremia - Acidosis (Metabolic , Respiratory , Lactic ) - Alkalosis (Metabolic , Respiratory ) - Mixed disorder of acid-base balance - H2 O 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
