Metabolic disorder
Classification according to ICD-10 | |
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E88.9 | Metabolic disorder, unspecified |
ICD-10 online (WHO version 2019) |
Under metabolic disorder , including metabolic abnormality called, refers to medical pathological deviations of the metabolic processes. These are often caused by a genetic deficiency in enzymes , but they can also be acquired.
Metabolic disorders are pathogenetically characterized by:
- Increase in metabolic intermediates (such as alkaptonuria , methylmalonic aciduria , phenylketonuria , porphyria )
- Defects in the transport of substances (e.g. Hartnup's disease , cystinuria )
- Production of unusual metabolites (such as phenylpyruvic acid in phenylketonuria , dicarboxylic acids in fatty acid oxidation disorders)
- Storage of metabolic products ( thesaurismoses )
It can disturbances in fat metabolism (z. B. hyperlipoproteinemia , so an increase in blood lipids) in the amino acid and protein metabolism (z. B. porphyria , a disturbance of the formation of hemoglobin ) in the carbohydrate specific metabolism (z. B. Forms of diabetes ) and mineral metabolism (e.g. phosphate deficiency).
Basic principle of a metabolic disorder
- physiological response
- pathological reaction, enzyme defect
- pathological reaction, overactive enzyme
The concept of congenital metabolic disorder was discovered by the English internist Archibald Garrod at the beginning of the 20th century . In his investigations into alkaptonuria , he assumed that a specific enzyme is responsible for each metabolic step . On this basis he postulated the enzyme defect as the cause of a metabolic disorder. An enzyme defect leads to a pathological accumulation of the corresponding substrate and a lack of metabolic products, which leads to the clinical symptoms of a 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 and diseases (selection)
- 3-methylglutacon aciduria
- Adrenogenital Syndrome
- Alkaptonuria
- Alpha-1 antitrypsin deficiency
- Diabetes mellitus (diabetes)
- Dorfman-Chanarin syndrome
- Erythropoietic protoporphyria (disease from the group of porphyrias )
- Galactosemia
- gout
- Glutaric aciduria
- Glycogenosis
- Urea cycle defect
- Hashimoto's thyroiditis
- Hereditary adenosine deaminase deficiency
- Hereditary zinc deficiency syndrome
- Hypertriglyceridemia
- Hypophosphatasia (Rathbuin syndrome)
- Hypothyroidism (underactive thyroid)
- Ketoacidosis
- Ketosis (acetonaemia, acetonuria)
- LCAT deficiency
- Lesch-Nyhan syndrome (hyperuricemia syndrome or hyperuricosis)
- Lipidosis
- Maroteaux-Lamy Syndrome
- Methylmalonic aciduria (MMA)
- Addison's disease (hypadrenocorticism)
- Conn's disease (hyperaldosteronism)
- Cushing's disease
- Fabry disease
- Gaucher's disease
- Hunter's disease (mucopolysaccharidosis type II)
- Morquio's disease
- Cystic fibrosis (cystic fibrosis)
- Myoadenylate Deaminase Deficiency (MADD)
- Polycystic Ovary Syndrome (PCOS)
- Phenylketonuria
- Porphyry
- Thesaurismosis (storage disease)
literature
- S2k guidelines for newborn screening for congenital metabolic disorders and endocrinopathies of the Society for Neonatology and Pediatric Intensive Care Medicine (GNPI). In: AWMF online (as of 2011)