Metabolic disorder

From Wikipedia, the free encyclopedia
Jump to navigation Jump to search
Metabolic disorder
Ragged red fibres - gtc - very high mag.jpg
Example of mitochondrial disease
SpecialtyEndocrinology Edit this on Wikidata
TypesCalcium metabolism disorders, Acid-base imbalance, Metabolic brain diseases[1]
Diagnostic methodDNA test[2]
TreatmentDepends which type(See types)

A metabolic disorder 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]


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.[medical citation needed] There are four categories of symptoms: acute symptoms, late-onset acute symptoms, progressive general symptoms and permanent symptoms.[5]


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 microorganisms 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 microbioma can play a role in metabolic disorder related obesity.[8]


Metabolic disorder screening can be done in newborns via the following methods:[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 therefore create a treatment that will be more effective for the individual.[10]

See also[edit]


  1. ^ a b "MeSH Descriptor Data: Metabolic diseases". National Library of Medicine. Retrieved 27 July 2015.
  2. ^ a b "Newborn Screening". MedlinePlus. Retrieved 27 July 2015.
  3. ^ a b "Metabolic Disorders: MedlinePlus". Retrieved 27 July 2015.
  4. ^ Graef, John W.; Wolfsdorf, Joseph I.; Greenes, David S. (2008). Manual of Pediatric Therapeutics. Lippincott Williams & Wilkins. ISBN 9780781771665.
  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.
  6. ^ "Inherited Metabolic Disorders Overview: Overview, Clinical Features and Differential Diagnosis, Epidemiology and Statistics". 2018-08-09. Cite journal requires |journal= (help)
  7. ^ "Inborn errors of metabolism". MedlinePlus Medical Encyclopedia. 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". Retrieved 2015-09-06.
  10. ^ Acosta, Phylis (2010). Nutrition Management of Patients with Inherited Metabolic Disorders. Jones and Bartlett. p. 2. ISBN 9781449633127. Retrieved 27 July 2015.

Further reading[edit]

External links[edit]