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Carnitine palmitoyltransferase II deficiency

Successful anaplerotic diet therapy

From the Institute of Metabolic Disease (C.R.R., B.-Z.Y., D.S.R., M.W., B.K.G.), Baylor University Medical Center, Dallas, TX; and Department of Nutrition (H.B.), Case School of Medicine, Cleveland, OH.

Address correspondence and reprint requests to Dr. Charles R. Roe, Institute of Metabolic Disease, Baylor University Medical Center, 3812 Elm St., Dallas, TX 75226 charlesr{at}baylorhealth.edu

Background: Carnitine palmitoyltransferase II (CPT II) deficiency is an important cause of recurrent rhabdomyolysis in children and adults. Current treatment includes dietary fat restriction, with increased carbohydrate intake and exercise restriction to avoid muscle pain and rhabdomyolysis.

Methods: CPT II enzyme assay, DNA mutation analysis, quantitative analysis of acylcarnitines in blood and cultured fibroblasts, urinary organic acids, the standardized 36-item Short-Form Health Status survey (SF-36) version 2, and bioelectric impedance for body fat composition. Diet treatment with triheptanoin at 30% to 35% of total daily caloric intake was used for all patients.

Results: Seven patients with CPT II deficiency were studied from 7 to 61 months on the triheptanoin (anaplerotic) diet. Five had previous episodes of rhabdomyolysis requiring hospitalizations and muscle pain on exertion prior to the diet (two younger patients had not had rhabdomyolysis). While on the diet, only two patients experienced mild muscle pain with exercise. During short periods of noncompliance, two patients experienced rhabdomyolysis with exercise. None experienced rhabdomyolysis or hospitalizations while on the diet. All patients returned to normal physical activities including strenuous sports. Exercise restriction was eliminated. Previously abnormal SF-36 physical composite scores returned to normal levels that persisted for the duration of the therapy in all five symptomatic patients.

Conclusions: The triheptanoin diet seems to be an effective therapy for adult-onset carnitine palmitoyltransferase II deficiency.

Abbreviations: ALT = alanine aminotransferase; AST = aspartate aminotransferase; ATP = adenosine triphosphate; BHP = β-hydroxypentanoate; BKP = β-ketopentanoate; BKP-CoA = β-ketopentanoyl–coenzyme A; BUN = blood urea nitrogen; CAC = citric acid cycle; CoA = coenzyme A; CPK = creatine phosphokinase; CPT II = carnitine palmitoyltransferase II; LDL = low-density lipoprotein; MCT = medium-chain triglyceride; PCS = physical composite score; SF-36 = 36-item Short-Form Health Status survey.

Supplemental data at www.neurology.org

Supported by grants from Baylor University Medical Center’s Research Foundation and NIH grant DK069752 (H.B.).

Disclosure: The authors report no disclosures.

Received November 2, 2007. Accepted in final form April 10, 2008.