- Rare Disease News
Menu
We believe rare disease patients are people, not a diagnosis. Through education, awareness and some humor, we help patients, caregivers and support persons by providing relevant and often inspirational news and stories.
Our goals are to share stories, cultivate strong community, provide the latest medical findings, connect people and pioneer production of patient worthy information. Help us attain these goals by telling us a little bit about yourself!
What is medium-chain 3-ketoacyl-coa thiolase deficiency?
Medium-chain-3-ketoacyl-coa thiolase deficiency (MCKAT deficiency) is a very rare fatty acid oxidation disorder that medical professionals still do not know much about.
What are the symptoms of medium-chain 3-ketoacyl-coa thiolase deficiency?
The known symptoms of this condition are liver dysfunction, dehydration, metabolic acidosis (too much acid builds up in the body), vomiting, muscle breakdown, poor muscle tone, low blood sugar, cardiomyopathy, fasting intolerance, and myoglobinuria.
What causes medium-chain 3-ketoacyl-coa thiolase deficiency?
Those affected by this disorder have a defect in the cellular pathway that breaks down fats. The enzyme needed to break down the fats is either lacking or missing. Medical professionals have yet to uncover the genetic root of this condition.
How is medium-chain 3-ketoacyl-coa thiolase deficiency diagnosed?
There is little knowledge on how to diagnose this condition. Urine tests have been used.
What are the treatments for medium-chain 3-ketoacyl-coa thiolase deficiency?
There is no cure for MCKAT deficiency; treatment is symptomatic.
Where can I find out more about medium-chain 3-ketoacyl-coa thiolase deficiency?