3-methylcrotonyl-coa carboxylase deficiency (3-MCC)

Inheritance

How is 3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC) inherited?

3-Methylcrotonyl-CoA Carboxylase (3-MCC) deficiency is a genetic disorder. It is caused by mutations in either the MCCC1 gene or the MCCC2 gene. It is inherited in an autosomal recessive pattern. This means that a person must have mutations in both copies of the gene in order to have the disorder. Most likely, one copy of the mutation was inherited from the person's mother, and the other copy of the mutation was inherited from the person's father.

In order to learn more about the inheritance of 3-MCC deficiency, people can speak with a geneticist or a genetic counselor. A genetic counselor can be found through the National Society of Genetic Counselors and using the Find A Genetic Counselor search.

References
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What does it mean to have inherited a “variant” in the gene for 3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC)?

Are there forms of 3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC) that aren’t genetic?

After having one child with 3-Methylcrotonyl-CoA Carboxylase deficiency, what are the chances of having another?

What does it mean to have inherited a “variant” in the gene for 3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC)?

To have inherited a “variant” in the gene for 3-Methylcrotonyl-CoA Carboxylase (3-MCC) Deficiency means that a genetic difference in either MCCC1 or MCCC2 is also present in one of an individual's parents.

In order to learn more about genetic variants in 3-MCC deficiency, people can speak with a geneticist or a genetic counselor. A genetic counselor can be found through the National Society of Genetic Counselors and using the Find A Genetic Counselor search.

References
Are there forms of 3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC) that aren’t genetic?

3-Methylcrotonyl-CoA Carboxylase (3-MCC) deficiency is only caused by mutations in the MCCC1 and MCCC2 genes. There are no non-genetic causes for 3-MCC deficiency known at this time.

In order to learn more about the genetics of in 3-MCC deficiency, people can speak with a geneticist or a genetic counselor. A genetic counselor can be found through the National Society of Genetic Counselors and using the Find A Genetic Counselor search.

References
After having one child with 3-Methylcrotonyl-CoA Carboxylase deficiency, what are the chances of having another?

If two people have a child with 3-Methylcrotonyl-CoA Carbroxylase (3-MCC) deficiency, it is assumed that each parent is a "carrier" for 3-MCC deficiency. Because 3-MCC deficiency is inherited in an autosomal recessive, in each pregnancy that two carriers have together, there is a 25% chance (1 in 4), that the child would have 3-MCC deficiency, 50% chance (1 in 2) that the child would be carrier for 3-MCC deficiency, and a 25% chance (1 in 4) that the child would neither be a carrier nor have 3-MCC deficiency.

In order to learn more about the chances in each pregnancy of having a child with 3-MCC deficiency, people can speak with a geneticist or a genetic counselor. A genetic counselor can be found through the National Society of Genetic Counselors and using the Find A Genetic Counselor search.

References

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