New! improved!



New! improved!

Researchers at the University of California in San Diego have found a new way to monitor improvement in patients with CPT II deficiency.

The scientists used proton magnetic resonance spectroscopy (MRS) to monitor muscle response to dietary treatment in a 53-year-old woman with CPT II deficiency.

Prior to treatment, the MRS scan revealed a shortened transverse relaxation time in the patient’s muscle, which would be consistent with increased acetylation of the carnitine pool. After treatment, the MRS scan returned to normal.

Prior to diagnosis, the patient's diet had consisted primarily of high-fat foods such as cheeseburgers, French fries, potato chips and milkshakes. Dietary therapy was instituted and consisted of a diet high in carbohydrates and low in long-chain fatty acids. The patient also took supplements of medium-chain triglycerides (MCT) 348 kcal per day and oral L-carnitine 1 g/day. Coenzyme Q10 120 mg/day was also used.

Dietary treatment resolved the woman’s symptoms, which the investigators describe as a 20-year history of episodes of diffuse aching and chronic fatigue that had become progressively worse. After treatment, levels of creatine kinase (CK) did not normalize but did decrease by 50%.

In another noted improvement, the low pretreatment levels of creatine in muscle returned to high normal after treatment. The investigators speculate that this change represents the growth of functional muscle.

31P-MR SPECTROSCOPY OF SKELETAL MUSCLE AIDS IN DIAGNOSIS

31P-MR spectroscopy of skeletal muscle under exercise was used to obtain the range of normal variation and comparison was made for different neuromuscular diseases. 41 examinations of 24 volunteers and 41 investigations in 35 patients were performed on 1.5 T MR systems. Patients with metabolic disorders and chronic fatigue syndrome (CFS) showed decreased testing values of PCr/(PCr + Pi) and increased pH levels during exercise. PCr recovery was significantly delayed in metabolic muscle disorders but was normal in CFS patients. PCr recovery seems to be a helpful indicator for diagnosis of metabolic muscle disorders.

Reference: Block W. Rofo Fortschr Geb Rontgenstr Nenen Bldgeb Verfuhr 1998 168(3):250-7

NEW TREATMENT RESEARCH PROTOCOL

Researchers at Baylor University in Dallas, Texas, are studying a new treatment for certain disorders of fat metabolism, including CPT II deficiency. Charles R. Roe, M.D., is recruiting adults and children with documented CPT II deficiency and six other fatty acid oxidation disorders to participate in an 18-month protocol designed to study the effects of the treatment. More detailed information about the treatment and the eligibility requirements is available on the FOD Support site.

Posted July 2001

Update on this study. Posted March 2002

Reference:
Videen JS et al. J Rheumatol 1999 26(8):1757-63

Related links:
In vivo muscle magnet resonance spectroscopy in the clinical investigation of mitochondrial disease

Direct measurement of high-energy phosphate compounds in patients with neuromuscular disease
Study by Mark Tarnopolsky, M.D., Ph.D., that explores the application of MRS to muscle disorders.

To read another case history where L-carnitine produced improvement, see Half time.

To read about the use of MCT oil in CPT deficiency, see Chain reaction.

Several neuromuscular disorders are associated with reductions in intramuscular adenosine triphosphate (ATP) and/or phosphocreatine. These alterations have been primarily characterized using P-magnetic resonance spectroscopy. Given the reduction in high-energy phosphate compounds in these patients, there is the potential for therapeutic intervention with creatine monohydrate supplements.

--Mark Tarnopolsky, M.D.