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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

References

1.Karpati, G, Carpenter, S.Engel, AG, et al. The syndrome of systemic carnitine deficiency. Neurology. 1975; 25: 16–24.CrossRefGoogle ScholarPubMed
2.Ware, AJ, Burton, WC, Mcgarry, JD, et al. Systemic carnitine deficiency. Report of a fatal case with multisystemic manifestations. J Ped 1978; 93: 959–964.CrossRefGoogle ScholarPubMed
3.Scarlato, G, Pellegrini, G, Cerri, G.et al. The syndrome of systemic carnitine deficiency: Morphological and metabolic correlations in two cases. Can J Neurol Sci 1978; 5: 205–213.CrossRefGoogle ScholarPubMed
4.Cornelio, F, Didonato, S, Peluchetti, D, et al. Fatal cases of lipid storage myopathy with carnitine deficiency. J Neurol Neurosurg Psych 1977; 40: 170–178.CrossRefGoogle ScholarPubMed
5.Slonin, AE, Borum, PR, Mrak, RE, et al. Nonketotic hypoglycemia: An early indicator of systemic carnitine deficiency. Neurology 1983; 33: 29–33.CrossRefGoogle Scholar
6.Rebouche, CJ, Engel, AG.Carnitine metabolism and deficiency syndromes. Mayo Clin Proc 1983; 58: 533–540.Google ScholarPubMed
7.Dimauro, S, Trevisan, C, Hays, A.Disorders of lipid metabolism in muscle. Muscle and Nerve 1980; 3: 369–383.CrossRefGoogle Scholar
8.Tripp, ME, Katcher, ML, Peters, HA, et al. Systemic carnitine deficiency presenting as familial endocardial fibroelastosis. New Eng J Med 1981; 305: 385–390.CrossRefGoogle ScholarPubMed
9.Didonato, S, Peluchetti, D.Rimoldi, M, et al. Systemic carnitine deficiency: clinical, biochemical and morphological cure with L-carnitine. Neurology 1984; 34: 157–162.CrossRefGoogle Scholar
10.Chapoy, PR, Angelini, C, Brown, WF, et al. Systemic carnitine deficiency — A treatable inherited lipid storage disease presenting as Reye’s syndrome. New Eng J Med 1980; 303: 1389–1394.CrossRefGoogle ScholarPubMed
11.Waber, LJ, Valle, D, Neill, C, et al. Carnitine deficiency presenting as familial cardiomyopathy: A treatable defect in carnitine transport. J Ped 1982; 101: 700–705.CrossRefGoogle ScholarPubMed
12.Stumpf, DA.Parker, WD, Angelini, C.Carnitine deficiency, organic acidemias, and Reye’s syndrome. Neurology 1985; 35: 1041–1045.CrossRefGoogle ScholarPubMed
13.Carrier, HN.Berthillier, G.Carnitine levels in normal children and adults and in patients with diseased muscle. Muscle and Nerve 1980; 3: 326–334.CrossRefGoogle Scholar
14.Didonato, S, Cornelio, F.Storchi, G, et al. Hepatic ketogenesis and muscle carnitine deficiency. Neurology 1979; 29: 780–785.CrossRefGoogle ScholarPubMed
15.Rebouche, CJ, Engel, AG.Primary systemic carnitine deficiency: 1. Carnitine biosynthesis. Neurology 1981; 31: 813–818.CrossRefGoogle Scholar
16.Engel, AG, Rebouche, CJ, Wilson, DM, et al. Primary systemic carnitine deficiency 11. Renal handling of carnitine. Neurology 1981; 31: 819–825.CrossRefGoogle Scholar
17.Rebouche, CJ, Engel, AG.In vitro analysis of hepatic carnitine biosynthesis in human systemic carnitine deficiency. Clin Chim Acta 1980; 106: 295–300.CrossRefGoogle ScholarPubMed
18.Rebouche, CJ, Engel, AG.Kinetic compartment analysis of carnitine metabolism in the human carnitine deficiency syndromes. J Clin Inv 1984; 857–867.CrossRefGoogle ScholarPubMed
19.Willner, JH, Ginsburg, S, Dimauro, S.Active transport of carnitine into skeletal muscle. Neurology 1978; 28: 721–724.CrossRefGoogle ScholarPubMed
20.Engel, AG, Angelini, C.Carnitine deficiency of human skeletal muscle with associated lipid storage myopathy: A new syndrome. Science 1973; 179: 899–902.CrossRefGoogle ScholarPubMed
21.Mcgarry, JD, Foster, DW.An improved and simplified radioisotopic assay for the determination of free and esterified carnitine. J Lipid Res 1976; 17: 277–280.CrossRefGoogle ScholarPubMed
22.Goodman, SI, Markey, GP.Diagnosis of organic acidemias by gas chromatography-mass spectrometry. New York, Allan R. Liss. 1981; 105–114.Google ScholarPubMed
23.Markesbery, WR, Mcquillen, MP, Procopis, PG, et al. Muscle carnitine deficiency. Arch Neurol 1974; 31: 320–324.CrossRefGoogle ScholarPubMed
24.Snyder, TM, Little, BW, Roman-Campos, G, et al. Successful treatment of familial idiopathic lipid storage myopathy with L-carnitine and modified lipid diet. Neurology 1982; 32: 1106–1115.CrossRefGoogle ScholarPubMed
25.Carroll, JE, Devivo, DC, Brooke, MH, et al. Fasting as a provocative test in neuromuscular diseases. Metabolism 1979; 28: 683–687.CrossRefGoogle ScholarPubMed
26.Carroll, JE, Brooke, MH, Shumate, JB, et al. Carnitine intake and excretion in neuromuscular diseases. Am J Clin Nutr 1981; 34: 2693–2698.CrossRefGoogle ScholarPubMed
27.Stryer, L.Biochemistry.San Francisco. W.H. Freeman & Co. 1975; 411.Google Scholar
28.Wolff, JA, Thuy, LP, Haas, R, et al. Carnitine reduces fasting ketogenesis in patients with disorders of proprionate metabolism. Lancet 1986; Feb. 8, 289–291.CrossRefGoogle Scholar