About Beta-ketothiolase deficiency
What is Beta-ketothiolase deficiency?
Beta-ketothiolase deficiency is an inherited disorder that affects the body's ability to break down certain proteins and fats. It is caused by a deficiency of the enzyme beta-ketothiolase, which is responsible for breaking down certain fatty acids and amino acids. Symptoms of this disorder can include vomiting, poor feeding, lethargy, seizures, and developmental delays. Treatment typically involves a combination of dietary changes, medications, and supplements.
What are the symptoms of Beta-ketothiolase deficiency?
The symptoms of Beta-ketothiolase deficiency vary depending on the severity of the condition, but may include:
-Renal tubular acidosis
What are the causes of Beta-ketothiolase deficiency?
Beta-ketothiolase deficiency is caused by mutations in the ACAT1 gene. This gene provides instructions for making an enzyme called acetoacetyl-CoA thiolase. This enzyme is involved in breaking down certain fats (lipids) in the body. Mutations in the ACAT1 gene reduce or eliminate the activity of this enzyme, leading to an accumulation of lipids in the body and the signs and symptoms of beta-ketothiolase deficiency.
What are the treatments for Beta-ketothiolase deficiency?
The primary treatment for Beta-ketothiolase deficiency is dietary management. This includes a low-protein diet, supplemented with essential amino acids, and a high-fat, low-carbohydrate diet. In some cases, medications such as carnitine and riboflavin may be prescribed to help manage symptoms. In severe cases, a liver transplant may be necessary.
What are the risk factors for Beta-ketothiolase deficiency?
1. Genetic inheritance: Beta-ketothiolase deficiency is an inherited disorder caused by mutations in the ACAT1 gene.
2. Ethnicity: Beta-ketothiolase deficiency is more common in certain ethnic groups, including people of Mediterranean, Middle Eastern, and North African descent.
3. Age: Beta-ketothiolase deficiency is more common in infants and young children.
Is there a cure/medications for Beta-ketothiolase deficiency?
Yes, there is a cure for Beta-ketothiolase deficiency. The treatment involves enzyme replacement therapy, which involves the administration of a synthetic form of the missing enzyme. Additionally, medications such as riboflavin, biotin, and thiamine may be prescribed to help manage the symptoms of the disorder.