Beta ketothiolase deficiency
Beta-ketothiolase deficiency
Beta-ketothiolase deficiency (pronunciation: bay-tuh kee-toh-thigh-o-layss deh-fish-en-see) is a rare genetic disorder that affects the body's ability to process proteins and lipids to produce energy.
Etymology
The term "Beta-ketothiolase deficiency" is derived from the name of the enzyme, beta-ketothiolase, which is deficient in individuals with this condition. The term "deficiency" refers to the lack or shortage of something.
Definition
Beta-ketothiolase deficiency is a metabolic disorder that prevents the body from effectively processing certain amino acids and lipids. This condition is characterized by episodes of ketoacidosis, a serious condition that can lead to coma or death if not treated promptly.
Symptoms
Symptoms of beta-ketothiolase deficiency typically appear in infancy or early childhood and can vary in severity. They include poor appetite, vomiting, irritability, lethargy, and developmental delay. During episodes of illness or stress, individuals with this condition may experience ketoacidosis.
Causes
Beta-ketothiolase deficiency is caused by mutations in the ACAT1 gene. This gene provides instructions for making an enzyme called beta-ketothiolase, which is involved in the breakdown of amino acids and lipids. Mutations in the ACAT1 gene reduce or eliminate the activity of this enzyme, leading to the symptoms of beta-ketothiolase deficiency.
Diagnosis
Diagnosis of beta-ketothiolase deficiency is based on the symptoms, genetic testing, and laboratory tests that measure the levels of certain substances in the blood and urine.
Treatment
Treatment for beta-ketothiolase deficiency involves managing the symptoms and preventing episodes of ketoacidosis. This may include a special diet, medications, and regular monitoring by a healthcare provider.
Related Terms
External links
- Medical encyclopedia article on Beta ketothiolase deficiency
- Wikipedia's article - Beta ketothiolase deficiency
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