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{{distinguish|Metabolic syndrome|Diabetes}}
{{Distinguish|Metabolic syndrome}}
{{Infobox medical condition (new)
{{Infobox medical condition (new)
| name = Metabolic disorder
| name = Metabolic disorder
| synonyms =
| synonyms =
| image = Ragged red fibres - gtc - very high mag.jpg
| image = Ragged red fibres - gtc - very high mag.jpg
| caption = Example of [[mitochondrial disease]]
| caption = Example of [[mitochondrial disease]]
| pronounce =
| pronounce =
| field =
| field =
| symptoms =
| symptoms =
| complications =
| complications =
| onset =
| onset =
| duration =
| duration =
| types = Calcium metabolism disorders, Acid-base imbalance, Metabolic brain diseases<ref name=type/>
| types = Calcium metabolism disorders, Acid-base imbalance, Metabolic brain diseases<ref name=type/>
| causes =
| causes =
| risks =
| risks =
| diagnosis = DNA test<ref name=screen/>
| diagnosis = DNA test<ref name=screen/>
| differential =
| differential =
| prevention =
| prevention =
| treatment = Depends which type(See types)
| treatment = Variable (see types)
| medication =
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| frequency =
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}}
}}


A '''metabolic disorder''' can happen when abnormal chemical reactions in the body alter the normal [[metabolic process]].<ref name=medline>{{Cite web|title = Metabolic Disorders: MedlinePlus|url = https://www.nlm.nih.gov/medlineplus/metabolicdisorders.html|website = www.nlm.nih.gov|accessdate = 27 July 2015}}</ref> It can also be defined as inherited single gene anomaly, most of which are autosomal recessive.<ref>{{Cite book |title = Manual of Pediatric Therapeutics |url = https://books.google.com/?id=2WAm0a_iLJQC&pg=PA406&dq=metabolic+disorder+definition#v=onepage&q=metabolic%2520disorder%2520definition&f=false |publisher = Lippincott Williams & Wilkins |date = 2008 |isbn = 9780781771665 |first = John W.|last = Graef|first2 = Joseph I.|last2 = Wolfsdorf|first3 = David S.|last3 = Greenes}}</ref>
A '''metabolic disorder''' is a disorder that negatively alters the body's processing and distribution of [[macronutrients]], such as [[protein]]s, [[fat]]s, and [[carbohydrate]]s. Metabolic disorders can happen when abnormal chemical reactions in the body alter the normal [[metabolic process]].<ref name=medline>{{Cite web|title = Metabolic Disorders: MedlinePlus|url = https://www.nlm.nih.gov/medlineplus/metabolicdisorders.html|website = www.nlm.nih.gov|access-date = 27 July 2015|archive-date = 4 July 2016|archive-url = https://web.archive.org/web/20160704213632/https://www.nlm.nih.gov/medlineplus/metabolicdisorders.html|url-status = live}}</ref> It can also be defined as inherited single gene anomaly, most of which are [[Dominance (genetics)|autosomal recessive]].<ref>{{Cite book|title = Manual of Pediatric Therapeutics|url = https://books.google.com/books?id=2WAm0a_iLJQC&q=metabolic%2520disorder%2520definition&pg=PA406|publisher = Lippincott Williams & Wilkins|date = 2008|isbn = 9780781771665|first1 = John W.|last1 = Graef|first2 = Joseph I.|last2 = Wolfsdorf|first3 = David S.|last3 = Greenes|access-date = 2020-12-01|archive-date = 2024-05-16|archive-url = 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|url-status = live}}</ref>


==Signs and symptoms==
==Symptoms==
Some of the symptoms that can occur with metabolic disorders are [[lethargy]], [[weight loss]], [[jaundice]] and [[seizure]]s. The symptoms expressed would vary with the type of metabolic disorder.{{medical citation needed|date=July 2015}} There are four categories of symptoms: acute symptoms, late-onset acute symptoms, progressive general symptoms and permanent symptoms.<ref>{{Cite book|title = Inborn Metabolic Diseases: Diagnosis and Treatment|url = https://books.google.com/books?id=97zoCAAAQBAJ|publisher = Springer Science & Business Media|date = 2013-03-14|page=4|isbn = 9783662031476|first = John|last = Fernandes|first2 = Jean-Marie|last2 = Saudubray|first3 = Georges van den|last3 = Berghe}}</ref>
Some of the symptoms that can occur with metabolic disorders are [[lethargy]], [[weight loss]], [[jaundice]] and [[seizure]]s. 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.<ref>{{Cite book|title = Inborn Metabolic Diseases: Diagnosis and Treatment|url = https://books.google.com/books?id=97zoCAAAQBAJ|publisher = Springer Science & Business Media|date = 2013-03-14|page = 4|isbn = 9783662031476|first1 = John|last1 = Fernandes|first2 = Jean-Marie|last2 = Saudubray|first3 = Georges van den|last3 = Berghe|access-date = 2015-09-06|archive-date = 2023-01-10|archive-url = https://web.archive.org/web/20230110173410/https://books.google.com/books?id=97zoCAAAQBAJ|url-status = live}}</ref>


==Causes==
==Causes==
{{see also|Inborn error of metabolism}}
{{See also|Inborn error of metabolism}}
[[File:Protein HFE PDB 1a6z.png|thumb|Protein involved in Iron metabolism disorder (HFE)]]
[[File:Protein HFE PDB 1a6z.png|thumb|400px|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.<ref>{{Cite journal |title = Inherited Metabolic Disorders Overview: Overview, Clinical Features and Differential Diagnosis, Epidemiology and Statistics|url = http://emedicine.medscape.com/article/1183253-overview|date = 2018-08-09}}</ref> These diseases, of which there are many subtypes, are known as [[inborn errors of metabolism]].<ref>{{Cite web |title = Inborn errors of metabolism |url = https://www.nlm.nih.gov/medlineplus/ency/article/002438.htm |work = MedlinePlus Medical Encyclopedia |accessdate = 27 July 2015}}</ref> Metabolic diseases can also occur when the [[liver]] or [[pancreas]] do not function properly.<ref name=medline/>
Inherited metabolic disorders are one cause of metabolic disorders, and occur when a defective gene causes an [[enzyme]] deficiency.<ref>{{cite web | last=Patel | first=Nitin C | title=Inherited Metabolic Disorders: Overview, Clinical Features and Differential Diagnosis, Epidemiology and Statistics | website=Medscape Reference | date=2021-06-08 | url=https://emedicine.medscape.com/article/1183253-overview |archive-date = 2022-10-01|archive-url = https://web.archive.org/web/20221001173537/https://emedicine.medscape.com/article/1183253-overview|url-status = live}}</ref> These diseases, of which there are many subtypes, are known as inborn errors of metabolism.<ref>{{Cite encyclopedia |title = Inborn errors of metabolism |url = https://www.nlm.nih.gov/medlineplus/ency/article/002438.htm |encyclopedia = MedlinePlus Medical Encyclopedia |access-date = 27 July 2015 |archive-date = 5 July 2016 |archive-url = https://web.archive.org/web/20160705052520/https://www.nlm.nih.gov/medlineplus/ency/article/002438.htm |url-status = live }}</ref> Metabolic diseases can also occur when the [[liver]] or [[pancreas]] do not function properly.<ref name=medline/>


=== Types ===
=== Types ===
The principal classes of metabolic disorders are:<ref name="type">{{cite web|url=https://www.nlm.nih.gov/cgi/mesh/2015/MB_cgi?field=uid&term=D008659|title=MeSH Descriptor Data: Metabolic diseases|publisher=National Library of Medicine|accessdate=27 July 2015 }}</ref>
The principal classes of metabolic disorders are:<ref name="type">{{cite web|url=https://www.nlm.nih.gov/cgi/mesh/2015/MB_cgi?field=uid&term=D008659|title=MeSH Descriptor Data: Metabolic diseases|publisher=National Library of Medicine|access-date=27 July 2015|archive-date=16 May 2024|archive-url=https://web.archive.org/web/20240516181838/https://meshb.nlm.nih.gov/#/record/ui?ui=D008659|url-status=live}}</ref>
{{col-list|colwidth=22em|
{{col-list|colwidth=22em|
* [[Acid-base imbalance]]
* [[Acid–base imbalance]]
* Metabolic brain diseases
* Metabolic brain diseases
* [[Disorders of calcium metabolism]]
* [[Disorders of calcium metabolism]]
* [[DNA repair-deficiency disorder]]s
* [[DNA repair-deficiency disorder]]s
* [[Glucose metabolism disorder]]s
* [[Glucose metabolism disorder]]s
* Hyperlactatemia
* [[Hyperlactatemia]]
* [[Iron metabolism disorder]]s
* [[Iron metabolism disorder]]s
* [[Lipid metabolism disorder]]s
* [[Lipid metabolism disorder]]s
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* Phosphorus metabolism disorders
* Phosphorus metabolism disorders
* [[Porphyria]]s
* [[Porphyria]]s
* Proteostasis deficiencies
* [[Proteostasis]] deficiencies
* Metabolic skin diseases
* Metabolic skin diseases
* [[Wasting syndrome]]
* [[Wasting syndrome]]
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==Diagnosis==
==Diagnosis==
[[File:EscherichiaColi NIAID.jpg|thumb|Gut microbiota]]
[[File:E. coli Bacteria (7316101966).jpg|thumb|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.<ref name="screen">{{Cite web |title = Newborn Screening |work=MedlinePlus |url = https://www.nlm.nih.gov/medlineplus/newbornscreening.html |accessdate = 27 July 2015}}</ref>
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.<ref name="screen">{{Cite web |title = Newborn Screening |work = MedlinePlus |url = https://www.nlm.nih.gov/medlineplus/newbornscreening.html |access-date = 27 July 2015 |archive-date = 5 July 2016 |archive-url = https://web.archive.org/web/20160705052118/https://www.nlm.nih.gov/medlineplus/newbornscreening.html |url-status = live }}</ref>


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.<ref>{{Cite journal|title = Gut Microbiota and Metabolic Disorders|journal = Diabetes & Metabolism Journal|date = 2015-06-01|issn = 2233-6079|pmc = 4483604|pmid = 26124989|pages = 198–203|volume = 39|issue = 3|doi = 10.4093/dmj.2015.39.3.198|first = Kyu Yeon|last = Hur|first2 = Myung-Shik|last2 = Lee}}</ref>
The [[gut microbiota]], which is a population of [[Microorganism|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]].<ref>{{Cite journal|title = Gut Microbiota and Metabolic Disorders|journal = Diabetes & Metabolism Journal|date = 2015-06-01|issn = 2233-6079|pmc = 4483604|pmid = 26124989|pages = 198–203|volume = 39|issue = 3|doi = 10.4093/dmj.2015.39.3.198|first1 = Kyu Yeon|last1 = Hur|first2 = Myung-Shik|last2 = Lee}}</ref>


==Screening==
==Screening==
Metabolic disorder screening can be done in newborns via the following methods:<ref>{{Cite web|title = Newborn Screening: MedlinePlus|url = https://www.nlm.nih.gov/medlineplus/newbornscreening.html|website = www.nlm.nih.gov|accessdate = 2015-09-06}}</ref>
Metabolic disorder screening can be done in newborns via [[Blood test|blood]], [[Skin test|skin]], or [[hearing test]]s.<ref>{{Cite web|title = Newborn Screening: MedlinePlus|url = https://www.nlm.nih.gov/medlineplus/newbornscreening.html|website = www.nlm.nih.gov|access-date = 2015-09-06|archive-date = 2016-07-05|archive-url = https://web.archive.org/web/20160705052118/https://www.nlm.nih.gov/medlineplus/newbornscreening.html|url-status = live}}</ref>

*[[Blood test]]
*Skin test
*Hearing test

==Management==
==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 therefore create a treatment that will be more effective for the individual.<ref>{{cite book|last1=Acosta|first1=Phylis|title=Nutrition Management of Patients with Inherited Metabolic Disorders|date=2010|publisher=Jones and Bartlett |page=2|url=https://books.google.com/?id=2bZr31vMGC8C&printsec=frontcover&dq=metabolic+disorder+Management#v=onepage&q=metabolic%20disorder%20Management&f=false|accessdate=27 July 2015|isbn=9781449633127}}</ref>
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.<ref>{{cite book|last1=Acosta|first1=Phylis|title=Nutrition Management of Patients with Inherited Metabolic Disorders|date=2010|publisher=Jones and Bartlett|page=2|url=https://books.google.com/books?id=2bZr31vMGC8C&q=metabolic+disorder+Management|access-date=27 July 2015|isbn=9781449633127|archive-date=16 May 2024|archive-url=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|url-status=live}}</ref>


== See also ==
== See also ==
* [[Metabolic syndrome]]
* [[Metabolic syndrome]]
* [[Metabolic myopathy|Metabolic Myopathies]]
* [[Lysosomal storage disease]]
* [[Lysosomal storage disease]]
* [[Deficiency disease]]
* [[Deficiency disease]]
* [[Hypermetabolism]]
* [[Citrullinemia]]


==References==
==References==
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==Further reading==
==Further reading==
*{{Cite book |title = Inherited Metabolic Diseases: A Clinical Approach |url = https://books.google.com/?id=ILIs-P6sDekC&printsec=frontcover#v=onepage&f=false |publisher = Springer |date = 21 November 2009 |isbn = 9783540747239|first = Georg F.|last = Hoffmann|first2 = Johannes|last2 = Zschocke|first3 = William L.|last3 = Nyhan}}
* {{Cite book |title = Inherited Metabolic Diseases: A Clinical Approach |url = https://books.google.com/books?id=ILIs-P6sDekC |publisher = Springer |date = 21 November 2009 |isbn = 9783540747239|first1 = Georg F.|last1 = Hoffmann|first2 = Johannes|last2 = Zschocke|first3 = William L.|last3 = Nyhan}}
*{{Cite journal |title=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 |url=http://www.guideline.gov/content.aspx?f=rss&id=48336 |accessdate=27 July 2015 |vauthors=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)) |journal=Endocr Pract |date=September–October 2013 |volume=19 |issue=Suppl 3 |pages=1–82 |doi=10.4158/EP13155.GL |pmid=24129260 |archive-url=https://web.archive.org/web/20160304064605/http://www.guideline.gov/content.aspx?f=rss&id=48336 |archive-date=4 March 2016 |dead-url=yes |df=dmy-all }}
* {{Cite journal |title=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 |vauthors=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)) |journal=Endocr Pract |date=September–October 2013 |volume=19 |issue=Suppl 3 |pages=1–82 |doi=10.4158/EP13155.GL |pmid=24129260 |df=dmy-all |doi-access=free }}


== External links ==
== External links ==
⚫
* {{cite web |title=Metabolic disorders |publisher=KidsHealth.org |url=http://kidshealth.org/parent/general/body_basics/metabolism.html |access-date=27 July 2015}}
{{Medical resources
{{Medical resources
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*{{cite web |title=Metabolic disorders |publisher=KidsHealth.org |url=http://kidshealth.org/parent/general/body_basics/metabolism.html |accessdate=27 July 2015}}
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[[Category:Metabolic disorders|*]]
[[Category:Metabolic disorders|*]]
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[[Category:Endocrinology]]
[[Category:Endocrinology]]
[[Category:Medical genetics]]
[[Category:Medical genetics]]

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Revision as of 03:43, 27 August 2024

Not to be confused with Metabolic syndrome.
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]

Causes

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]

Types

The principal classes of metabolic disorders are:[1]

Diagnosis

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]

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

References

  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". www.nlm.nih.gov. 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. ^ Patel, Nitin C (2021-06-08). "Inherited Metabolic Disorders: Overview, Clinical Features and Differential Diagnosis, Epidemiology and Statistics". Medscape Reference. Archived from the original on 2022-10-01.
  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". www.nlm.nih.gov. 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

Scholia has a topic profile for Metabolic disorder.
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