Metabolic disorder explained

Metabolic disorder
Types:	Calcium metabolism disorders, Acid-base imbalance, Metabolic brain diseases
Diagnosis:	DNA test
Treatment:	Variable (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.^[1] It can also be defined as inherited single gene anomaly, most of which are autosomal recessive.^[2]

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.^[3]

Causes

See also: Inborn error of metabolism. Inherited metabolic disorders are one cause of metabolic disorders, and occur when a defective gene causes an enzyme deficiency.^[4] These diseases, of which there are many subtypes, are known as inborn errors of metabolism.^[5] Metabolic diseases can also occur when the liver or pancreas do not function properly.^[1]

Types

The principal classes of metabolic disorders are:^[6]

Diagnosis

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.^[7]

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]

Screening

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

Management

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

• Metabolic syndrome
• Metabolic Myopathies
• Lysosomal storage disease
• Deficiency disease
• Hypermetabolism
• Citrullinemia

Further reading

• Book: Inherited Metabolic Diseases: A Clinical Approach . Springer . 21 November 2009 . 9783540747239. Georg F.. Hoffmann. Johannes. Zschocke. William L.. Nyhan.
• Clinical practice guidelines for healthy eating for the prevention and treatment of metabolic and endocrine diseases in adults: cosponsored by the American Association of Clinical Endocrinologists/the American College of Endocrinology and the Obesity Society . 27 July 2015 . Gonzalez-Campoy JM, St Jeor ST, Castorino K, Ebrahim A, Hurley D, Jovanovic L, Mechanick JI, Petak SM, Yu YH, Harris KA, Kris-Etherton P, Kushner R, Molini-Blandford M, Nguyen QT, Plodkowski R, Sarwer DB, Thomas KT, ((American Association of Clinical Endocrinologists)), ((American College of Endocrinology and the Obesity Society)) . Endocr Pract . September–October 2013 . 19 . Suppl 3 . 1–82 . 10.4158/EP13155.GL . 24129260 . https://web.archive.org/web/20160304064605/http://www.guideline.gov/content.aspx?f=rss&id=48336 . 4 March 2016 . dead . dmy-all . free .

External links

• Web site: Metabolic disorders . KidsHealth.org . 27 July 2015.

Notes and References

1. Web site: Metabolic Disorders: MedlinePlus. www.nlm.nih.gov. 27 July 2015. 4 July 2016. https://web.archive.org/web/20160704213632/https://www.nlm.nih.gov/medlineplus/metabolicdisorders.html. live.
2. Book: Manual of Pediatric Therapeutics. Lippincott Williams & Wilkins. 2008. 9780781771665. John W.. Graef. Joseph I.. Wolfsdorf. David S.. Greenes. 2020-12-01. 2024-05-16. https://web.archive.org/web/20240516181836/https://books.google.com/books?id=2WAm0a_iLJQC&q=metabolic%2520disorder%2520definition&pg=PA406#v=snippet&q=metabolic%2520disorder%2520definition&f=false. live.
3. Book: Inborn Metabolic Diseases: Diagnosis and Treatment. Springer Science & Business Media. 2013-03-14. 4. 9783662031476. John. Fernandes. Jean-Marie. Saudubray. Georges van den. Berghe. 2015-09-06. 2023-01-10. https://web.archive.org/web/20230110173410/https://books.google.com/books?id=97zoCAAAQBAJ. live.
4. Web site: Patel . Nitin C . Inherited Metabolic Disorders: Overview, Clinical Features and Differential Diagnosis, Epidemiology and Statistics . Medscape Reference . 2021-06-08 . 2022-10-01. https://web.archive.org/web/20221001173537/https://emedicine.medscape.com/article/1183253-overview. live.
5. Encyclopedia: Inborn errors of metabolism . MedlinePlus Medical Encyclopedia . 27 July 2015 . 5 July 2016 . https://web.archive.org/web/20160705052520/https://www.nlm.nih.gov/medlineplus/ency/article/002438.htm . live .
6. Web site: MeSH Descriptor Data: Metabolic diseases. National Library of Medicine. 27 July 2015. 16 May 2024. https://web.archive.org/web/20240516181838/https://meshb.nlm.nih.gov/#/record/ui?ui=D008659. live.
7. Web site: Newborn Screening . MedlinePlus . 27 July 2015 . 5 July 2016 . https://web.archive.org/web/20160705052118/https://www.nlm.nih.gov/medlineplus/newbornscreening.html . live .
8. Gut Microbiota and Metabolic Disorders. Diabetes & Metabolism Journal. 2015-06-01. 2233-6079. 4483604. 26124989. 198–203. 39. 3. 10.4093/dmj.2015.39.3.198. Kyu Yeon. Hur. Myung-Shik. Lee.
9. Web site: Newborn Screening: MedlinePlus. www.nlm.nih.gov. 2015-09-06. 2016-07-05. https://web.archive.org/web/20160705052118/https://www.nlm.nih.gov/medlineplus/newbornscreening.html. live.
10. Book: Acosta. Phylis. Nutrition Management of Patients with Inherited Metabolic Disorders. 2010. Jones and Bartlett. 2. 27 July 2015. 9781449633127. 16 May 2024. https://web.archive.org/web/20240516181900/https://books.google.com/books?id=2bZr31vMGC8C&q=metabolic+disorder+Management#v=snippet&q=metabolic%20disorder%20Management&f=false. live.