Thiolase deficiency

Thiolase deficiency, also known as Beta-ketothiolase deficiency, is a rare metabolic disorder that prevents the body from properly processing certain amino acids and lipids. This condition is inherited in an autosomal recessive manner, meaning both copies of the gene in each cell have mutations.

Symptoms

The symptoms of thiolase deficiency typically appear in infancy or early childhood. They include vomiting, dehydration, difficulty breathing, lethargy, and seizures. If untreated, the condition can lead to metabolic acidosis, coma, and potentially death.

Causes

Thiolase 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 isoleucine (an amino acid) and certain lipids. Mutations in the ACAT1 gene reduce or eliminate the activity of beta-ketothiolase, preventing these molecules from being broken down properly.

Diagnosis

Diagnosis of thiolase deficiency is typically made through newborn screening tests, which can detect elevated levels of certain metabolites in the blood. Genetic testing can confirm the diagnosis by identifying mutations in the ACAT1 gene.

Treatment

Treatment for thiolase deficiency involves a strict diet that limits the intake of isoleucine and certain lipids. This can help to prevent the buildup of harmful metabolites. In some cases, medications may be used to help control symptoms.

Prognosis

With early diagnosis and appropriate treatment, individuals with thiolase deficiency can lead relatively normal lives. However, without treatment, the condition can be life-threatening.

See also

• Metabolic disorder
• Amino acid
• Lipid
• ACAT1
• Isoleucine

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