Beta-ketothiolase deficiency
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
Beta-ketothiolase deficiency | |
---|---|
Synonyms | 2-methylacetoacetyl-CoA thiolase deficiency, mitochondrial acetoacetyl-CoA thiolase deficiency |
Pronounce | |
Specialty | Medical genetics |
Symptoms | Ketoacidosis, vomiting, dehydration, hypoglycemia, lethargy, coma |
Complications | N/A |
Onset | Infancy |
Duration | Chronic |
Types | |
Causes | Mutations in the ACAT1 gene |
Risks | |
Diagnosis | Genetic testing, urine organic acid analysis |
Differential diagnosis | Maple syrup urine disease, propionic acidemia, methylmalonic acidemia |
Prevention | |
Treatment | Dietary management, intravenous fluids, bicarbonate therapy |
Medication | |
Prognosis | Variable, depends on management |
Frequency | Rare |
Deaths |
Beta-ketothiolase deficiency, also known as mitochondrial acetoacetyl-CoA thiolase (T2) deficiency or 2-methylacetoacetyl-CoA thiolase deficiency, is a rare metabolic disorder characterized by an inability to metabolize certain types of amino acids and ketones. This condition is part of a group of disorders known as organic acidemias. Beta-ketothiolase deficiency is caused by mutations in the ACAT1 gene, which encodes the mitochondrial enzyme acetoacetyl-CoA thiolase, essential for the breakdown of isoleucine, a type of amino acid, and the utilization of ketones, which are produced during periods of fasting or illness.
Symptoms and Diagnosis[edit | edit source]
The symptoms of beta-ketothiolase deficiency typically manifest during infancy or early childhood and can be triggered by periods of fasting, infections, or other stressors. These symptoms may include vomiting, dehydration, difficulty breathing, lethargy, and in severe cases, coma. If left untreated, the disorder can lead to developmental delay, seizures, and potentially life-threatening metabolic crises. Diagnosis of beta-ketothiolase deficiency involves biochemical tests that detect elevated levels of specific organic acids in the urine. Genetic testing can confirm the diagnosis by identifying mutations in the ACAT1 gene.
Treatment and Management[edit | edit source]
The management of beta-ketothiolase deficiency focuses on preventing metabolic crises through a controlled diet that limits the intake of isoleucine and other problematic amino acids. During illness or other stressors, prompt medical intervention to prevent catabolism and the accumulation of toxic metabolites is critical. This may include intravenous glucose and electrolytes to maintain energy levels and hydration. In some cases, supplements of carnitine may be recommended to help remove excess organic acids from the body.
Prognosis[edit | edit source]
With early diagnosis and proper management, individuals with beta-ketothiolase deficiency can lead relatively normal lives. However, the risk of metabolic crises remains, and ongoing medical supervision is necessary to adjust dietary and treatment plans as needed.
Transform your life with W8MD's budget GLP1 injections from $125
W8MD offers a medical weight loss program NYC and a clinic to lose weight in Philadelphia. Our W8MD's physician supervised medical weight loss centers in NYC provides expert medical guidance, and offers telemedicine options for convenience.
Why choose W8MD?
- Comprehensive care with FDA-approved weight loss medications including:
- loss injections in NYC both generic and brand names:
- weight loss medications including Phentermine, Qsymia, Diethylpropion etc.
- Accept most insurances for visits or discounted self pay cost.
- Generic weight loss injections starting from just $125.00 for the starting dose
- In person weight loss NYC and telemedicine medical weight loss options in New York city available
- Budget GLP1 weight loss injections in NYC starting from $125.00 biweekly with insurance!
Book Your Appointment
Start your NYC weight loss journey today at our NYC medical weight loss, and Philadelphia medical weight loss Call (718)946-5500 for NY and 215 676 2334 for PA
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's NYC physician weight loss.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro / Zepbound) available. Call 718 946 5500.
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