Definition:
MAT deficiency is used to describe two metabolic disorders, which are unrelated -- Beta-ketothiolase deficiency and Hypermethioninemia. Beta-ketothiolase deficiency prevents the body from properly processing the products of lipid breakdown, known as amino acid isoleucine. Hypermethioninemia is a condition of excessive unprocessed amino acid methionine in the blood.
Symptoms and Signs:
A patient with beta-ketothiolase deficiency may experience vomiting, dehydration, trouble breathing, extreme tiredness, or convulsions, which could result in a coma. Infection, not eating, or certain types of stress can trigger these attacks. A person with hypermethioninemia may not show signs of the disorder. But some individuals may demonstrate neurological problemsa and delays in motor skills. Their breath, sweat, or urine may also smell like boiled cabbage.
Causes:
Beta-ketothiolase deficiency is due to unprocessed amino acid isoleucine in the body that has developed to toxic levels in the blood. Hypermethioninemia occurs when methionine did not properly break down in the body. It may also be due to liver disease or excessive methionine due to large consumption of protein or infant formula enriched in methionine.
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