2-Methyl-3-Hydroxybutyric acidemia (2M3HBA) Deficiency

Causes

What gene change causes 2-Methyl-3-Hydroxybutyric Acidemia (2M3HBA) deficiency?

Genes are the instructions that tell the body how to work. 2-methyl-3-hydroxybutyric acidemia (2M3HBA) deficiency is caused by changes in a gene called the HSD17B10 gene. The HSD17B10 gene gives instructions for you body to make a protein called HSD10. The HSD10 protein has many jobs in the body. It is responsible for breaking down some fats and building blocks called isoleucine. It also plays a role maintaining the correct levels of male and female hormones. In addition, the HSD10 protein helps the brain function correctly. When there is a gene change in the HSD17B10 gene it causes the gene to either make less or no HSD10 protein. Researchers are unsure as of July 2016 why having less than normal amounts of this protein leads to the symptoms seen in 2-methyl-3-hydroxybutyric acidemia (2M3HBA) deficiency. If you or a family member have had genetic testing for 2-methyl-3-hydroxybutyric acidemia (2M3HBA) deficiency and you would like to learn more about the genetic change that was found, talk to your doctor or a genetic counselor in your area.

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What happens because of the HSD17B10 gene change?

What happens because of the HSD17B10 gene change?

Genes are the instructions that tell the body how to work. 2-methyl-3-hydroxybutyric acidemia (2M3HBA) deficiency is caused by changes in a gene called the HSD17B10 gene. The HSD17B10 gene gives instructions for you body to make a protein called HSD10. The change in the HSD17B10 gene leads to a change in the HSD10 protein. This protein is called an enzyme, which is a group of proteins that act to speed up a reaction within cells. In this case, this enzyme's job is to break down the protein building block, isoleucine. This protein also breaks down fatty acids, and helps in the chemical reactions involving sex hormones. It also plays a role in regulating activity in the nervous system.

When a change occurs in our genes that leads to a change in this protein, the resulting protein is not able to do its job as efficiently, or not be able to do its job at all.

2M3HBA deficiency is inherited in an X-linked dominant pattern in families. Chromosomes provide the instructions that tell the body how to work correctly. Chromosomes come in pairs, and one member of the pair comes from the mother and the other member comes from the father. Twenty-two of the pairs are matching. The 23rd pair is called the sex chromosomes, because they determine the gender of an individual. Females have two copies of the X chromosome, and males have one X and one Y chromosome. The gene for 2M3HBA deficiency is found on the X chromosome. Having one copy of a gene change in this condition is sufficient to cause symptoms, thus females have symptoms. However, since males who have a gene change in the affected gene do not have a normal working copy, the symptoms tend to be more severe in males. If you or a family member has had genetic testing for 2-methyl-3-hydroxybutyric aciduria (2M3HBA) deficiency and you would like to learn more about the genetic change that was found, talk to your doctor or a genetic counselor in your area.

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