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


How is 2-Methyl-3-Hydroxybutyric Acidemia (2M3HBA) deficiency inherited?

2-methyl-3-hydroxybutyric acidemia (2M3HBA) deficiency is inherited in an X-linked dominant manner. The genes in our body are the instructions that tell the body how to work correctly. Genes are organized onto structures called chromosomes. In most cells in our body, we have 46 chromosomes. The chromosomes come in pairs, with half of the chromosomes coming from the mother and half from the father. The first 22 pairs of chromosomes are matching. However, the 23rd pair of chromosomes is called the sex chromosomes, because that pair determines the gender of an individual. Females have two copies of the X chromosome, which means they have two copies of each of the genes found on the X chromosome. Males have one X chromosome and one Y chromosome. There are only a few genes that are the same on the X and Y chromosomes. The gene for 2-Methyl-3-Hydroxybutyric acidemia (2M3HBA) deficiency is only found on the X chromosome and not the Y chromosome. Therefore, males only have one copy of this gene. Therefore, if the gene that causes 2-methyl-3-hydroxybutyric acidemia (2M3HBA) deficiency has a genetic change (mutation) there is no "back up" gene like there is in females. For this reason, males have more severe symptoms than females.

If a female has a mutation in the gene for 2-Methyl-3-Hydroxybutyric acidemia (2M3HBA) deficiency, there is a 50% chance she will pass on the abnormal gene and thus the condition to her children with each pregnancy. Males with 2-Methyl-3-Hydroxybutyric acidemia (2M3HBA) deficiency will pass the condition on to all of their daughters and none of their sons. Meeting with a genetic counselor in your area can help you and other family members better understand their risks to have a child with 2-Methyl-3-Hydroxybutyric acidemia (2M3HBA) deficiency.

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What does it mean to have inherited a "variant" in the gene for 2-Methyl-3-Hydroxybutyric Acidemia (2M3HBA) deficiency?

What does it mean to have inherited a "variant" in the gene for 2-Methyl-3-Hydroxybutyric Acidemia (2M3HBA) deficiency?

An inherited "variant" in the HSD17B10 gene for 2-methyl-3-hydroxybutyric acidemia (2M3HBA) deficiency means the individual has inherited a change in the gene that may cause the deficiency. A variant may or may not cause features of the syndrome. There are natural changes in every person walking around which is what makes everyone different. Other gene changes cause the body to work improperly and can cause disease. There are several different variants found to cause 2-methyl-3-hydroxybutyric acidemia (2M3HBA) deficiency. As of July 2016, conclusions have not been drawn pointing to different variants being "worse" or "better" than others. A genetic counselor or medical geneticist can help you understand more about a gene variant you may have.

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