Carnitine Palmitoyl Transferase Deficiency Type II

Wondering if you have ever heard of this?  My husband may have this. We had one visit to the University of Chicago, they thing this is it. Possibly wants to do genetic testing. Here is what I wrote a couple of months ago....

As I write, my husband is in the hopsital with a CPK level of over 600,000. (That number is correct.) He started with flu-like symptoms, and then body aches. His urine turned a very dark color. He is only being treated with IV-solution. We are told that his muscles are breaking down. Sound familiar to anyone? Please help!

[Lisa Kessler, MS, CGC]

Thank you for your question.  I hope that the following information about Carnitine palmitoyltransferase II (CPT II) deficiency is helpful to you.   CPT II is a metabolic condition that can run in the family.  The diagnosis is often made in young adults, and the symptoms include recurrent episodes of rhabdomyolysis (breakdown of muscle fibers).  This muscle breakdown is triggered by prolonged exercise, fasting, or fever.  

CPT II runs in families in an autosomal recessive manner.  This means that someone who has this condition has two disease causing mutations in the CPT 2 gene.  Siblings of someone affected with CPT II have a 25% chance of also being affected.  Two carriers of a CPT2 mutation have a 25% chance to have a child with this condition.  

Genetic testing is available clinically for this condition.  It may help your husband to meet with a clinical geneticist and genetic counselor to learn more about this condition, the available testing and the risks for other family members.   A genetic counselor can be found through the National Society of Genetic Counselors and a medical geneticist can be found through the American College of Medical Genetics.  Best wishes to you and your husband.  

[anoukvandalen]

A related discussion, EDS and CPT@ was started.