2-Methylacetoacetyl CoA thiolase deficiency

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2-Methylacetoacetyl-CoA thiolase deficiency, also known as beta-ketothiolase deficiency, is a rare metabolic disorder characterized by an enzyme deficiency that affects the body's ability to metabolize certain amino acids and lipids. This condition is part of a group of disorders known as organic acidemias. The enzyme involved, 2-methylacetoacetyl-CoA thiolase (T2), plays a critical role in the isoleucine catabolism pathway and in ketone body metabolism.

Symptoms and Diagnosis[edit | edit source]

Individuals with 2-methylacetoacetyl-CoA thiolase deficiency typically present with symptoms in infancy or early childhood. These symptoms can be triggered by periods of fasting or illness and may include vomiting, lethargy, ketoacidosis, and sometimes, severe metabolic crises that can lead to coma. Long-term complications may include developmental delay and neurological issues.

Diagnosis is often made through biochemical analysis showing elevated levels of specific organic acids in the urine and by genetic testing confirming mutations in the ACAT1 gene, which encodes the T2 enzyme.

Treatment and Management[edit | edit source]

Management of 2-methylacetoacetyl-CoA thiolase deficiency involves dietary restrictions to limit the intake of isoleucine and possibly other branched-chain amino acids. Regular meals to avoid fasting, and in some cases, supplementation with carnitine, are recommended to support the body's energy production and reduce the accumulation of toxic metabolites. During acute metabolic crises, prompt medical intervention is necessary, which may include intravenous fluids, glucose, and electrolyte management.

Genetics[edit | edit source]

The condition is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected. Carriers of one mutated gene typically do not show symptoms of the disease.

Epidemiology[edit | edit source]

2-Methylacetoacetyl-CoA thiolase deficiency is considered a rare disease, with a relatively low number of cases reported worldwide. The exact prevalence is unknown.

Research and Outlook[edit | edit source]

Research into 2-methylacetoacetyl-CoA thiolase deficiency is ongoing, with studies focusing on better understanding the molecular basis of the disease, improving diagnostic methods, and developing more effective treatments. Advances in genetic therapy and enzyme replacement therapy hold promise for future therapeutic options.

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Contributors: Prab R. Tumpati, MD