Beta ketothiolase deficiency

2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (2M3HBA) , HSD10 deficiency

Overview

Type of disease: Rare conditions

Beta ketothiolase deficiency or 2M3HBA is a rare genetic condition. 2M3HBA results from a mutation (error) in a person’s DNA. 2M3HBA is considered an organic acid condition because it leads to a buildup of harmful amounts of organic acids in the body. Protein in the food we eat is broken down into amino acids, or “building blocks”. We typically eat more protein than needed; therefore we often have more amino acids than we need. Enzymes (special proteins) breakdown the extra amino acids into organic acids and ammonia, and then harmless products our body can get rid of. If one of the enzymes needed is missing or not working correctly, the amino acid is not broken all the way down and builds up in our system as organic acids. Although organic acids are only mild acids, both organic acids and ammonia can damage our bodies if too much builds up. In this case the enzyme, 2-methyl-3-hydroxybutyryl, is unable to break down the amino acid, isoleucine.

Signs of 2M3HBA typically begin to show during infancy, and males are affected more severely because it is an X-linked dominant condition. Males do not meet developmental milestones (such as sitting up, crawling, or walking), while females have mild to moderate developmental delays. Other symptoms include loss of appetite, tiredness, seizures, and weak muscle tone. Treatment often includes a special diet plan. Early diagnosis has shown to be effective in improving the health of individuals with 2M3HBA. Many babies are screened at birth so that treatment may begin early, however the conditions included in newborn screening vary state by state. For more information, visit Baby’s First Test.. Talk with your doctor to determine the most current treatment options. Support groups also a good source of information. A genetic counselor will help you understand the genetics.

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