Clinical spectrum and predisposing factors suggesting that screening for carnitine deficiency should be considered

The clinical spectrum associated with carnitine deficiency may include^1,2 :

• Cardiomyopathy
• Encephalopathy
• Nonketotic hypoglycemia
• Hypotonia / Muscle weakness
• Recurrent infections
• Failure to thrive
• Liver dysfunction of unknown etiology

Predisposing factors for carnitine deficiency may include^1,2 :

• Inborn errors of metabolism, such as organic acidurias and fatty acid oxidation disorders
• Fanconi syndrome
• Chronic renal dialysis
• Carnitine-deficient diet
• Extreme prematurity
• Malabsorption
• HIV infection or antiretroviral therapy^3-5
• Therapy with valproic acid

References:1. Shannon DW, Wolfe GS: Carnitine deficiency: a missed diagnosis. J Care Manag 1997;3:1-8. 2. De Vivo DC, Tein I: Primary and secondary disorders of carnitine metabolism. Int Pediatr 1990;5:134-141. 3. Mintz M: Carnitine in human immunodeficiency virus type 1 infection/acquired immune deficiency syndrome. J Child Neurol 1995;10(suppl):2S40-2S44. 4. Vilaseca MA, et al: Low serum carnitine in HIV-infected children on antiretroviral treatment. Eur J Clin Nutr 2003;57:1317-1322. 5. De Simone C, et al: L-carnitine deficiency in AIDS patients. AIDS 1992;6:203-205.