Skip to main content Accessibility help
×
×
Home
  • Print publication year: 2010
  • Online publication date: November 2010

7 - L-carnitine therapy in primary and secondary carnitine deficiency disorders

from SECTION II - COFACTORS
Recommend this book

Email your librarian or administrator to recommend adding this book to your organisation's collection.

Small Molecule Therapy for Genetic Disease
  • Online ISBN: 9780511777905
  • Book DOI: https://doi.org/10.1017/CBO9780511777905
Please enter your name
Please enter a valid email address
Who would you like to send this to *
×
REFERENCES
Siliprandi, N, Sartorelli, L, Ciman, M, Di Lisa, F. Carnitine: Metabolism and clinical chemistry. Clin Chem Acta. 1989;183(1):3–11
Bremer, J. The role of carnitine in intracellular metabolism. J Clin Chem Clin Biochem. 1990;28(5):297–301
Rebouche, CJ, Paulson, DJ. Carnitine metabolism and function in humans. Annu Rev Nutr. 1986;6:41–66
Treem, WR, Stanley, CA, Finegold, DN, Hale, , Coates, PM. Primary carnitine deficiency due to a failure of carnitine transport in kidney, muscle and fibroblasts. N Engl J Med. 1988;319(20):1331–1336
Pons, R, DeVivo, D. Primary and secondary carnitine deficiency syndromes. J Child Neurology. 1995;10(Suppl 2):S8–S24
http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=212140
Lamhonwah, AM, Olpin, SE, Pollitt, RJ, Vianey-Saban, C, Divry, P, Guffon, N, Besley, GT, Onizuka, R, De Meirleir, LJ, Cvitanovic-Sojat, L, Baric, I, Dionisi-Vici, C, Fumic, K, Maradin, M, Tein, I. Novel OCTN 2 mutations: No genotype-phenotype correlations: Early carnitine therapy prevents cardiomyopathy. Am J Med Genet. 2002;111:271–284
Koizumi, A, Nozaki, J, Ohura, T, Kayo, T, Wada, Y, Nezu, J, Ohashi, R, Tamai, I, Shoji, Y, Takada, G, Kibira, S, Matsuishi, T, Tsuji, A. Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiencyHum Mol Genet. 1999;8(12):2247–2254
Angelini, C, Trevisan, G, Isaya, G, Pegolo, G, Vergani, L. Clinical varieties of carnitine and carnitine palmitoyltransferase deficiency. Clin Biochem. 1987;20:1–7
Cederbaum, S, Koo-McCoy, S, Tein, I, Hsu, BY, Ganguly, A, Vilain, E, Dipple, K, Cvitanovic-Sojat, L, Stanley, C. Carnitine membrane transporter deficiency: A long-term follow up and OCTN2 mutation in the first documented case of primary carnitine deficiency. Mol Genet Metab. 2002;77:195–201
Hou, J. Primary systemic carnitine deficiency presenting as recurrent Reye-like syndrome and dilated cardiomyopathy. Chang Gung Med J. 2002;25:832–837
Goa, K, Brogden, R. l-Carnitine. A preliminary review of its pharmacokinetics and its therapeutic use in ischemic cardiac disease and primary and secondary carnitine deficiencies in relationship to its role in fatty acid metabolism. Drugs. 1987;34:1–24
Takahashi, R, Asai, T, Murakami, H, Murakami, R, Tsuzuki, M, Numaguchi, Y, Matsui, H, Murohara, T, Okumura, K. Pressure overload-induced cardiomyopathy in heterozygous carrier mice of carnitine transporter gene mutation. Hypertension. 2007;50:497–502
Engel, AG, Rebouche, CJ. Carnitine metabolism and inborn errors. J. Inher Metab Dis. 1984;7(Suppl 1):38–43
Vielhaber, S, Feistner, H, Weis, J, Kreuder, J, Sailer, M, Schroder, JM, Kunz, WS. Primary carnitine deficiency: Adult onset lipid storage myopathy with a mild clinical course. J Clin Neurosci. 2004;11(8):919–924
Ashbrook, DW. Carnitine supplementation in human carnitine deficiency. Borum, P.R., ed. Clinical Aspects of Human Carnitine Deficiency, Pergamon Press, New York, 120–134, 1986
Chalmers, RA, Roe, CR, Stacey, TE, Hoppel, CL. Urinary excretion of L-carnitine and acylcarnitines in patients with disorders of organic acid metabolism: Evidence for secondary insufficiency of l-carnitine. Pediatr Res. 1984;18(12):1325–1328
Engel, AG, Angelini, C. Carnitine deficiency of human skeletal muscle with associated lipid storage myopathy: A new syndrome. Science. 1973;179(76):899–902
DiMauro, S, Trevisan, C, Hays, A. Disorders of lipid metabolism in muscle. Muscle Nerve. 1980;3(5):369–388
Roe, CR, Bohan, TP. L-carnitine therapy in propionicacidemia. Lancet. 1982;(8286):1411–1412
Rebouche, CJ, Engel, AG. Carnitine metabolism and deficiency syndromes. Mayo Clin Proc. 1983;58(8):533–540
Stanley, CA, Hale, , Coates, PM, Hall, CL, Corkey, BE, Yang, W, Kelly, RI, Gonzales, EL, Williamson, JR, Baker, L. Medium-chain acyl-CoA dehydrogenase deficiency in children with non-ketotic hypoglycemia and low carnitine levels. Pediatr Res. 1983;17(11):877–884
Chalmers, RA, Stacey, TE, Tracey, BM, deSousa, C, Roe, CR, Millington, DS, Hoppel, CL. L-Carnitine insufficiency in disorders of organic acid metabolism: Response to L-carnitine by patients with methylmalonic aciduria an 3-hydroxy-3-methylglutaric aciduria. J Inherit Metab Dis. 1984;7(Suppl 2):109–110
Stumpf, DA, Parker, WD Jr, Angelini, C. Carnitine deficiency, organic acidemias and Reye's syndrome. Neurology. 1985;35(7):1041–1045
Winter, SC, Szabo-Aczel, S, Curry, CJ, Hutchinson, HT, Hogue, R, Shug, A. Plasma carnitine deficiency. Clinical observations in 51 pediatric patients. Am J Dis Child. 1987;141(6):660–665
Engel, AG, Rebouche, CJ. Carnitine metabolism and inborn errors. J Inherit Metab Dis. 1984;7(Suppl 1):38–43
DiDonato, S, Rimoldi, M, Garavaglia, B, Uziel, G. Propionylcarnitine excretion in propionic and methylmalonic acidurias: A cause of carnitine deficiency. Clin Chim Acta. 1984;139(1):13–21
Roe, CR, Millington, DS, Maltby, DA, Bohan, TP, Hoppel, CL. L-carnitine enhances excretion of propionyl coenzyme A as propionylcarnitine in propionic acidemia. J Clin Invest. 1984;73(6):1785–1788
Turnbull, DM, Bartlett, K, Stevens, DL, Alberti, KG, Gibson, GJ, Johnson, MA, McCulloch, AJ, Sherratt, HS. Short-chain acyl-CoA dehydrogenase deficiency associated with a lipid-storage myopathy and secondary carnitine deficiency. N Engl J Med. 1984;311(19):1232–1236
Mooy, PD, Przyrembel, H, Giesberts, MA, Scholte, HR, Blom, W, Gelderen, HH. Glutaric aciduria type II: Treatment with riboflavin, carnitine and insulin. Eur J Pediatr. 1984;143(2):92–95
Roe, CR, Millington, DS, Maltby, DA, Kahler, SG, Bohan, TP. L-carnitine therapy in isovaleric acidemia. J Clin Invest. 1984;74(6):2290–2295
Winter, SC. Treatment of carnitine deficiency. J Inherit Metab Dis. 2003;26(2–3):171–180
Nasser, M, Javaheri, H, Fedorowicz, Z, Noorani, Z. Carnitine supplementation in inborn errors of metabolism. Cochrane Database Syst Rev. 2009;(2):CD006659