Metabolic disorder
Example of mitochondrial disease
SpecialtyEndocrinology Edit this on Wikidata
TypesCalcium metabolism disorders, Acid-base imbalance, Metabolic brain diseases[1]
Diagnostic methodDNA test[2]
TreatmentVariable (see types)

A metabolic disorder is a disorder that negatively alters the body's processing and distribution of macronutrients, such as proteins, fats, and carbohydrates. Metabolic disorders can happen when abnormal chemical reactions in the body alter the normal metabolic process.[3] It can also be defined as inherited single gene anomaly, most of which are autosomal recessive.[4]

Signs and symptoms

Some of the symptoms that can occur with metabolic disorders are lethargy, weight loss, jaundice and seizures. The symptoms expressed would vary with the type of metabolic disorder. There are four categories of symptoms: acute symptoms, late-onset acute symptoms, progressive general symptoms and permanent symptoms.[5]


See also: Inborn error of metabolism

Protein involved in Iron metabolism disorder (HFE)

Inherited metabolic disorders are one cause of metabolic disorders, and occur when a defective gene causes an enzyme deficiency.[6] These diseases, of which there are many subtypes, are known as inborn errors of metabolism.[7] Metabolic diseases can also occur when the liver or pancreas do not function properly.[3]


The principal classes of metabolic disorders are:[1]


Gut microbiota

Metabolic disorders can be present at birth, and many can be identified by routine screening. If a metabolic disorder is not identified early, then it may be diagnosed later in life, when symptoms appear. Specific blood and DNA tests can be done to diagnose genetic metabolic disorders.[2]

The gut microbiota, which is a population of microbes that live in the human digestive system, also has an important part in metabolism and generally has a positive function for its host. In terms of pathophysiological/mechanism interactions, an abnormal gut microbiota can play a role in metabolic disorder related obesity.[8]


Metabolic disorder screening can be done in newborns via blood, skin, or hearing tests.[9]


Metabolic disorders can be treatable by nutrition management, especially if detected early. It is important for dieticians to have knowledge of the genotype to create a treatment that will be more effective for the individual.[10]

See also


  1. ^ a b "MeSH Descriptor Data: Metabolic diseases". National Library of Medicine. Archived from the original on 16 May 2024. Retrieved 27 July 2015.
  2. ^ a b "Newborn Screening". MedlinePlus. Archived from the original on 5 July 2016. Retrieved 27 July 2015.
  3. ^ a b "Metabolic Disorders: MedlinePlus". Archived from the original on 4 July 2016. Retrieved 27 July 2015.
  4. ^ Graef, John W.; Wolfsdorf, Joseph I.; Greenes, David S. (2008). Manual of Pediatric Therapeutics. Lippincott Williams & Wilkins. ISBN 9780781771665. Archived from the original on 2024-05-16. Retrieved 2020-12-01.
  5. ^ Fernandes, John; Saudubray, Jean-Marie; Berghe, Georges van den (2013-03-14). Inborn Metabolic Diseases: Diagnosis and Treatment. Springer Science & Business Media. p. 4. ISBN 9783662031476. Archived from the original on 2023-01-10. Retrieved 2015-09-06.
  6. ^ "Inherited Metabolic Disorders Overview: Overview, Clinical Features and Differential Diagnosis, Epidemiology and Statistics". 2018-08-09. Archived from the original on 2022-10-01. Retrieved 2015-07-27. ((cite journal)): Cite journal requires |journal= (help)
  7. ^ "Inborn errors of metabolism". MedlinePlus Medical Encyclopedia. Archived from the original on 5 July 2016. Retrieved 27 July 2015.
  8. ^ Hur, Kyu Yeon; Lee, Myung-Shik (2015-06-01). "Gut Microbiota and Metabolic Disorders". Diabetes & Metabolism Journal. 39 (3): 198–203. doi:10.4093/dmj.2015.39.3.198. ISSN 2233-6079. PMC 4483604. PMID 26124989.
  9. ^ "Newborn Screening: MedlinePlus". Archived from the original on 2016-07-05. Retrieved 2015-09-06.
  10. ^ Acosta, Phylis (2010). Nutrition Management of Patients with Inherited Metabolic Disorders. Jones and Bartlett. p. 2. ISBN 9781449633127. Archived from the original on 16 May 2024. Retrieved 27 July 2015.

Further reading