Metabolic disorder#Further reading

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.{{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}}

{{See also|Inborn error of metabolism}}

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

The principal classes of metabolic disorders are:{{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}}{{better source needed|date=May 2025}}

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• Acid–base imbalance
• Metabolic brain diseases
• Disorders of calcium metabolism
• DNA repair-deficiency disorders
• Glucose metabolism disorders
• Hyperlactatemia
• Iron metabolism disorders
• Lipid metabolism disorders
• Malabsorption syndromes
• Metabolic syndrome X
• Inborn error of metabolism
• Mitochondrial diseases
• Phosphorus metabolism disorders
• Porphyrias
• Proteostasis deficiencies
• Metabolic skin diseases
• Wasting syndrome
• Water-electrolyte imbalance

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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.{{Cite web |title = Newborn Screening |website= 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 |publisher=National Library of Medicine}}

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.{{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}} A 2023 meta-analysis of six cohort studies involving 484,994 participants found no significant overall association between metabolic syndrome (MetS) and Alzheimer's disease (AD) risk. However, individual components of MetS, such as hypertension and hyperglycemia, were linked to an increased risk of AD, highlighting the complex interplay between metabolic dysfunction and neurodegeneration.{{Cite journal |last=Feng |first=Yanqiong |last2=Cheng |first2=Lili |last3=Zhou |first3=Weiying |last4=Lu |first4=Jiru |last5=Huang |first5=Huiyu |date=February 2025 |title=Metabolic Syndrome and the Risk of Alzheimer's Disease: A Meta-Analysis |url=https://www.liebertpub.com/doi/abs/10.1089/met.2024.0155?utm_source=chatgpt.com& |journal=Metabolic Syndrome and Related Disorders |volume=23 |issue=1 |pages=30–40 |doi=10.1089/met.2024.0155 |issn=1540-4196}}

Metabolic disorder screening can be done in newborns via blood, skin, or hearing tests.{{Cite web|title = Newborn Screening|website=MedlinePlus|publisher=National Library of Medicine|url = https://www.nlm.nih.gov/medlineplus/newbornscreening.html|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}}

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.{{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}} Recent systematic reviews and meta-analyses have highlighted the effectiveness of medical nutrition therapy (MNT) in managing metabolic disorders, especially when tailored to individual genotypes. For instance, a 2023 study demonstrated that MNT provided by dietitians significantly improved glycemic control, anthropometric measures, lipid profiles, and blood pressure in adults with prediabetes. These findings underscore the importance of personalized nutrition interventions in the effective management of metabolic disorders.{{Cite journal |last=Dudzik |first=Josephine M. |last2=Senkus |first2=Katelyn E. |last3=Evert |first3=Alison B. |last4=Raynor |first4=Hollie A. |last5=Rozga |first5=Mary |last6=Handu |first6=Deepa |last7=Moloney |first7=Lisa M. |date=2023-11-01 |title=The effectiveness of medical nutrition therapy provided by a dietitian in adults with prediabetes: a systematic review and meta-analysis |url=https://www.sciencedirect.com/science/article/pii/S0002916523661209?utm_source=chatgpt.com |journal=The American Journal of Clinical Nutrition |volume=118 |issue=5 |pages=892–910 |doi=10.1016/j.ajcnut.2023.08.022 |issn=0002-9165}}

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

{{Reflist|32em}}

• {{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 |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 }}

• {{cite web |title=Metabolic disorders |publisher=KidsHealth.org |url=http://kidshealth.org/parent/general/body_basics/metabolism.html |access-date=27 July 2015}}

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Category:Metabolism

Category:Endocrinology

Category:Medical genetics