DWQA QuestionsCategory: QuestionsHeterozygous CPT2 deficiency
Max Holmes asked 1 month ago
My 18-year old son was recently diagnosed with CPT2 deficiency after being hospitalized with rhabdomyolysis on Jan. 4, 2024. Genetic testing revealed that he is heterozygous for the deficient gene, and my wife, my daughter, and I are now undergoing genetic testing to learn more. My son is a competitive basketball player and committed to play in college just before his episode of rhabdo. My question is whether there are other examples of high level athletes with CPT2 deficiency. I’m also curious about how this supposedly recessive trait can be symptomatic in a heterozygous individual.

For reference, we live on Cape Cod and my son is being treated at Boston Children’s Hospital.

Thank you,

Max Holmes

1 Answers
Keith McIntire answered 1 month ago

Mr. Holmes,

There have been some reports of heterozygotes (carriers) of CPS2 who are symptomatic, but it is much more likely that the genetic testing just missed the mutation on the second copy of his gene.

This is common, especially if the test he has was a gene panel. Your geneticists should be able to do additional testing to help sort out this possibility, including the pending testing on the rest of the family.

It also possible to do functional testing on a skin cell sample. Regarding exercise, I know of patients with CPT2 defixciency who have played college sports, but it is very individual and most have continued

to have problems with rhabo. I know of one individual who insisted on continuing long distance running (half marathons), most accepting a rhabo episode at the end of a race.

Once a diagnosis is confirmed, he is likely to benefit from treatment including trihepatanoin (Dojolvi). Your genetics team can help implement this therapy.

I hope this helps

Dr. Vockley