MAT deficiency

T2 deficiency, Beta-ketothiolase deficiency, 2-methyl-3-hydroxybutyricacidemia, 2-methylacetoacetyl-coenzyme A thiolase deficiency, 3-alpha-oxothiolase deficiency, 3-ketothiolase deficiency, 3-oxothiolase deficiency, Alpha-methylacetoacetic aciduria, Methylacetoacetyl-coenzyme A thiolase deficiency, Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency - potassium stimulated, Mitochondrial acetoacetyl-CoA thiolase deficiency, Β-ketothiolase deficiency

Overview

Type of disease: Rare Condition or Disease

Beta-ketothiolase deficiency is an inherited disorder in which the body cannot effectively process a protein building block (amino acid) called isoleucine. This disorder also impairs the body’s ability to process ketones, which are molecules produced during the breakdown of fats. The signs and symptoms of beta-ketothiolase deficiency typically appear between the ages of 6 months and 24 months. Affected children experience episodes of vomiting, dehydration, difficulty breathing, extreme tiredness (lethargy), and, occasionally, seizures. These episodes, which are called ketoacidotic attacks, sometimes lead to coma. Ketoacidotic attacks are frequently triggered by infections or periods without food (fasting), and increased intake of protein-rich foods can also play a role. Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. Testing will involve checking urine and blood samples for harmful levels of acids and toxins. Certain acids and toxins build up in the body when a child has an organic acid condition, so finding out the levels of these substances can help doctors determine if a child has a condition. High levels of C5-OH acylcarnitine in the blood and organic acids in the urine might be a sign of BKT. Sometimes follow-up testing may include testing a very small sample of skin. With early treatment, children can have healthy growth and development. There are some cases where children show signs of beta-ketothiolase deficiency (BKT) even with treatment. However, these signs usually decrease with age. If BKT is not treated, children can develop intellectual disabilities and seizures.

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