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

Published online by Cambridge University Press:  18 September 2015

M.D. Levitan ,
J.T. Murphy ,
W.G. Sherwood ,
J. Deck  and
G.M.J. Sawa
M.D. Levitan
Affiliation:
Toronto General Hospital, Divisions of Neurology and Neuropathology, Departments of Medicine, Pathology and The Hospital for Sick Children, Department of Pediatrics, University of Toronto
J.T. Murphy*
Affiliation:
Toronto General Hospital, Divisions of Neurology and Neuropathology, Departments of Medicine, Pathology and The Hospital for Sick Children, Department of Pediatrics, University of Toronto
W.G. Sherwood
Affiliation:
Toronto General Hospital, Divisions of Neurology and Neuropathology, Departments of Medicine, Pathology and The Hospital for Sick Children, Department of Pediatrics, University of Toronto
J. Deck
Affiliation:
Toronto General Hospital, Divisions of Neurology and Neuropathology, Departments of Medicine, Pathology and The Hospital for Sick Children, Department of Pediatrics, University of Toronto
G.M.J. Sawa
Affiliation:
Toronto General Hospital, Divisions of Neurology and Neuropathology, Departments of Medicine, Pathology and The Hospital for Sick Children, Department of Pediatrics, University of Toronto
*
11-221 Eaton North, Toronto General Hospital, 200 Elizabeth St., Toronto, Ontario, Canada M5G 2C4
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Abstract:

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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 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.

Type
Original Articles
Information
Canadian Journal of Neurological Sciences , Volume 14 , Issue 1 , February 1987 , pp. 50 - 54
Copyright
Copyright © Canadian Neurological Sciences Federation 1987

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