2,4 Dienoyl-CoA reductase deficiency
2,4 Dienoyl-CoA Reductase Deficiency[edit | edit source]
2,4 Dienoyl-CoA Reductase Deficiency is a rare metabolic disorder that affects the breakdown of certain fatty acids in the body. This condition is caused by a deficiency in the enzyme 2,4-dienoyl-CoA reductase, which is essential for the beta-oxidation of unsaturated fatty acids.
Pathophysiology[edit | edit source]
The enzyme 2,4-dienoyl-CoA reductase plays a critical role in the mitochondrial beta-oxidation pathway, specifically in the metabolism of unsaturated fatty acids with double bonds at even-numbered positions. In individuals with this deficiency, the inability to properly metabolize these fatty acids leads to the accumulation of intermediate metabolites, which can be toxic and disrupt normal cellular function.
Clinical Presentation[edit | edit source]
Patients with 2,4 dienoyl-CoA reductase deficiency typically present with symptoms in infancy or early childhood. Common clinical features include:
Diagnosis[edit | edit source]
Diagnosis of this condition is based on clinical presentation, biochemical testing, and genetic analysis. Biochemical tests may reveal elevated levels of unsaturated fatty acids and their derivatives in the blood and urine. Genetic testing can confirm mutations in the gene encoding the 2,4-dienoyl-CoA reductase enzyme.
Treatment[edit | edit source]
Management of 2,4 dienoyl-CoA reductase deficiency involves dietary modifications to limit the intake of unsaturated fatty acids and supplementation with medium-chain triglycerides (MCTs), which can be metabolized through an alternative pathway. Supportive care and monitoring for complications such as cardiomyopathy are also important aspects of treatment.
Prognosis[edit | edit source]
The prognosis for individuals with 2,4 dienoyl-CoA reductase deficiency varies depending on the severity of the enzyme deficiency and the effectiveness of dietary management. Early diagnosis and intervention can improve outcomes and quality of life.
Related Pages[edit | edit source]
Gallery[edit | edit source]
Diagram of the dienoyl-CoA reductase reaction.
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro / Zepbound) available.
Advertise on WikiMD
WikiMD's Wellness Encyclopedia |
Let Food Be Thy Medicine Medicine Thy Food - Hippocrates |
Translate this page: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
தமிழ்,
తెలుగు,
Urdu,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
বাংলা
European
español,
Deutsch,
français,
Greek,
português do Brasil,
polski,
română,
русский,
Nederlands,
norsk,
svenska,
suomi,
Italian
Middle Eastern & African
عربى,
Turkish,
Persian,
Hebrew,
Afrikaans,
isiZulu,
Kiswahili,
Other
Bulgarian,
Hungarian,
Czech,
Swedish,
മലയാളം,
मराठी,
ਪੰਜਾਬੀ,
ગુજરાતી,
Portuguese,
Ukrainian
Medical Disclaimer: WikiMD is not a substitute for professional medical advice. The information on WikiMD is provided as an information resource only, may be incorrect, outdated or misleading, and is not to be used or relied on for any diagnostic or treatment purposes. Please consult your health care provider before making any healthcare decisions or for guidance about a specific medical condition. WikiMD expressly disclaims responsibility, and shall have no liability, for any damages, loss, injury, or liability whatsoever suffered as a result of your reliance on the information contained in this site. By visiting this site you agree to the foregoing terms and conditions, which may from time to time be changed or supplemented by WikiMD. If you do not agree to the foregoing terms and conditions, you should not enter or use this site. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates, categories Wikipedia, licensed under CC BY SA or similar.
Contributors: Prab R. Tumpati, MD