Beta-ketothiolase deficiency

Beta-ketothiolase deficiency (pronounced as: bay-tuh kee-toh-thigh-o-layss de-fish-en-see) is a rare inherited metabolic disorder. It is also known as 2-methylacetoacetyl-coenzyme A thiolase deficiency or T2 deficiency.

Etymology

The term "Beta-ketothiolase deficiency" is derived from the enzyme "beta-ketothiolase" which is deficient in individuals with this disorder. The term "deficiency" refers to the lack or shortage of something.

Overview

Beta-ketothiolase deficiency is characterized by an inability to effectively process amino acids and lipids. This is due to a deficiency in the mitochondrial enzyme beta-ketothiolase, which is involved in the catabolism of isoleucine, a branched-chain amino acid, and the degradation of ketone bodies, which are molecules used for energy.

Symptoms

The symptoms of beta-ketothiolase deficiency typically become apparent in infancy or early childhood and can vary in severity. They may include metabolic acidosis, ketosis, hypoglycemia, lethargy, vomiting, dehydration, and, in severe cases, coma.

Diagnosis

Diagnosis of beta-ketothiolase deficiency is typically made through genetic testing, which can identify mutations in the ACAT1 gene that cause the disorder. Additional tests may include urine tests to detect elevated levels of certain organic acids.

Treatment

Treatment for beta-ketothiolase deficiency typically involves a low-protein diet to reduce the intake of isoleucine and the use of medications to manage symptoms. In some cases, dialysis may be required to remove harmful substances from the blood.

See also

• Metabolic disorder
• Amino acid
• Lipid
• Ketone bodies
• Isoleucine
• Metabolic acidosis
• Ketosis
• Hypoglycemia
• Lethargy
• Vomiting
• Dehydration
• Coma
• Genetic testing
• Urine tests
• Dialysis

External links

• Medical encyclopedia article on Beta-ketothiolase deficiency
• Wikipedia's article - Beta-ketothiolase deficiency

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