Medium-chain 3-ketoacyl-coa thiolase deficiency
Alternate names[edit | edit source]
- Medium chain 3-ketoacyl CoA thiolase deficiency
- Medium chain ketoacyl coA thiolase deficiency
- Medium-chain 3-ketoacyl-CoA thiolase deficiency
- Medium-chain keto acyl-CoA thiolase deficiency
- Medium-chain ketoacyl-CoA thiolase
Definition[edit | edit source]
Medium-chain ketoacyl-CoA thiolase (MCKAT) deficiency is a condition that prevents the body from breaking down certain fats and turning them into energy. If the body does not make enough energy from fat, substances build up in the blood and can cause serious health problems.
Cause[edit | edit source]
- In MCKAT deficiency, the medium-chain ketoacyl-CoA thiolase enzyme is not working correctly.
- This enzyme helps the body break down certain fats.
- When the MCKAT enzyme does not work, substances called “medium chain fatty acids” build up in the body.
- The buildup of medium chain fatty acids leads to the signs and symptoms of the condition.
Signs and sympotms[edit | edit source]
Signs of the condition may include the following:
- Breathing problems
- Vomiting
- Low blood sugar (hypoglycemia)
- Diarrhea
- Weight loss
- Poor appetite
Diagnosis[edit | edit source]
- Newborn screening for MCKAT deficiency is done using a small amount of blood collected from your baby’s heel.
- During screening, a special machine measures how much of certain substances (called acylcarnitines) are in your baby’s blood.
- Your body produces these substances when it makes energy from fats.
- Babies with high levels of these substances might have MCKAT deficiency.
Treatment[edit | edit source]
- The goal of treatment is to prevent the health problems caused by this condition.
- MCKAT deficiency is so rare that there are no standard treatments.
NIH genetic and rare disease info[edit source]
Medium-chain 3-ketoacyl-coa thiolase deficiency is a rare disease.
| This article is a stub. You can help WikiMD by registering to expand it. |
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: Deepika vegiraju
