Metabolic disorder

Classification according to ICD-10
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

${\displaystyle \mathrm {Substrat\ A{\xrightarrow {Enzym}}Produkt\ B} }$

physiological response

${\displaystyle \mathrm {Ansammlung\ von\ A{\xrightarrow {defektes\ Enzym}}Mangel\ an\ B} }$

pathological reaction, enzyme defect

${\displaystyle \mathrm {Mangel\ von\ A{\xrightarrow {hyperaktives\ Enzym}}Ansammlung\ von\ B} }$

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)

See also : Hereditary diseases  and list of endocrine, nutritional and metabolic diseases according to ICD-10

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)

This article is about a health issue. It is not used for self-diagnosis and does not replace a diagnosis by a doctor. Please note the information on health issues !