Adult Onset Systemic Carnitine Deficiency: Favorable Response to L-Carnitine Supplementation

M.D. Levitan, J.T. Murphy, W.G. Sherwood, J. Deck, G.M.J. Sawa
1987 Canadian Journal of Neurological Sciences  
Abstract:We report the case of a patient who at age 39 first developed an episode of muscle weakness and transient ketoacidosis with biopsy proven fatty infiltration of the liver. Over the next several years, myopathy ensued; biopsy revealed extensive deposition of lipid globules in type 1 muscle fibres. Further investigations established the diagnosis of systemic carnitine deficiency (SCD) with skeletal muscle, hepatic, and cardiac involvement. The patient has benefited from L-carnitine
more » ... L-carnitine supplementation. Our case represents an unusually late onset of SCD and highlights the necessity, when appropriate, of a high index of suspicion of this rare but treatable disorder.
doi:10.1017/s0317167100026172 fatcat:p3owhvwylrffzb32vk6fbrwgeq