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CPT and Chronic Fatigue Syndrome

09/07/2000 04:27PM


My 19 yr. old was diagnosed with CPT deficiency following a muscle biopsy two yrs. ago. She was functioning well with a change in diet and lessened athletic training. However, she now has CFS. It is the type characterized by hypotension, probably as a result of athletic overtraining. A program of medication has been suggested, but we need to locate an expert in our area (Florida). What kind of speciality should we be seeking? Are there any experts in this area? Thank you for your response.


I`m not sure what disorder you are speaking about when you say “CPT deficiency”. Because you mentioned changing diet and athletic training, I assume you are talking about the metabolic disorder carnitine palmitoyltransferase II deficiency – CPTII. Am I correct?

CPT deficiency disorders – there are more than one type – are inherited disorders that affect the enzymes that work together to transport lipids (fatty acids) into mitochondria in the cells – which in turn can make energy known as ATP. If one of the enzymes is deficient (due to changes in the gene that codes for the enzyme) then the transport system is impaired and energy production is affected.

CPTII usually causes muscle pain and stiffness. There may be other symptoms as well. Many people are initially misdiagnosed as having other disorders – including chronic fatigue syndrome, before the correct diagnosis is made.

I would think that a specialist in biochemical disorders or inborn errors of metabolism would be the best place to start. I would suggest that you contact a genetics center or genetic counselor in your area to ask about a doctor that is a biochemical specialist. The National Society of Genetic Counselors website below has a resource listing of centers in each state. You might also check with the support group known as FODsupport – which works with families who have these types of disorders. The website is listed below.

For more information:

National Society of Genetic Counselors

Response by:

Case Western Reserve University Anne Matthews, R.N., Ph.D.
Director, Genetic Counseling and Family Studies

Center for Human Genetics

School of Medicine

Case Western Reserve University

Anne   Matthews, R.N., Ph.D.