Metab-L

Under metabolic disorder, also called metabolic abnormality, one understands the medical pathological deviations of the metabolic processes. These are often caused by genetic enzyme deficiency, but can also be acquired.

Pathogenesis, the diseases are characterized by:

  • Increase of metabolic intermediates (such as alkaptonuria, methylmalonic, phenylketonuria, porphyrinuria )
  • Defects in the transport of substances (eg, Hartnup 's disease, cystinuria )
  • Production of unusual metabolites ( such as phenylpyruvic acid in phenylketonuria, dicarboxylic acids with fatty acid oxidation disorders)
  • Storage of metabolic products ( Thesaurismosen )

It can disturbances in lipid metabolism (eg hyperlipoproteinemia, ie an increase in blood fats ) in the amino acid or protein metabolism (eg, porphyria, a disorder of the formation of hemoglobin), carbohydrate metabolism (eg, certain forms of diabetes), and mineral metabolism (such as phosphate deficiency ) may occur.

Basic principle of a metabolic disorder

The concept of inborn metabolic disorder that was discovered in the early 20th century by the English internists Sir A. Garrod. In his study of alkaptonuria he assumed that a particular enzyme is responsible for every metabolic step. On this basis he postulated the enzyme defect as the cause of a metabolic disorder. By an enzyme defect leads to a pathological accumulation of the corresponding substrate and lack of metabolic products, resulting in the clinical symptoms of metabolic disease. An accumulation of the substrates can lead to intoxication, enzyme inhibition, accumulation and activation of alternative metabolic pathways. The lack of product leads to metabolic deficits.

List of metabolic disorders (selection)

  • Congenital adrenal hyperplasia
  • Alkaptonuria
  • Alpha - 1 antitrypsin deficiency
  • Diabetes mellitus (diabetes )
  • Erythropoietic protoporphyria ( disease from the group of porphyrias )
  • Galactosemia
  • Glutaraziduria
  • Urea cycle defect
  • Hashimoto 's thyroiditis
  • Hypertriglyceridemia
  • Hypophosphatasia ( Rathbuin syndrome)
  • Hypothyroidism ( underactive thyroid )
  • Ketoacidosis
  • Ketosis ( acetonemia, acetonuria )
  • Lesch -Nyhan syndrome ( hyperuricemia syndrome or Hyperurikose )
  • Lipidosis
  • Methylmalonic aciduria ( MMA)
  • Addison's disease ( Hypadrenokortizismus )
  • Conn 's disease ( hyperaldosteronism )
  • Cushing's disease
  • Fabry disease
  • Gaucher disease
  • Hunter syndrome ( Mucopolysaccharidosis II)
  • Cystic fibrosis (cystic fibrosis)
  • Phenylketonuria
  • Porphyrias
  • Thesaurismose ( storage disease)
  • Urikopathie (gout)

See also: hereditary diseases, disease, metabolism, metabolic disorders according to ICD -10

Enzyme substrate (biology) Bioaccumulation Glutaric acidemia type 2 Sphingolipidoses Genetic disorder Medical guideline
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