ketohapetele
Ketohapetele, also known as ketohapetele disease or ketohapetele syndrome, is a rare genetic disorder characterized by the accumulation of ketone bodies in the blood and urine. It is caused by a deficiency in the enzyme beta-ketothiolase, which is responsible for breaking down ketone bodies. This deficiency leads to the buildup of ketone bodies, which can cause a variety of symptoms, including vomiting, abdominal pain, and lethargy.
Ketohapetele is an autosomal recessive disorder, meaning that an individual must inherit two copies of the
There is currently no cure for ketohapetele, but treatment focuses on managing the symptoms and preventing
Ketohapetele is a rare disorder, with an estimated prevalence of less than one in 100,000 individuals. It