[1]
Czeczot H., Ścibior D.: Rola L-karnityny w przemianach, żywieniu
i terapii. Postepy Hig Med Dosw 2005; 59: 9–19.
[2]
Gulewitsch W. I., Krimberg R.: Zur Kenntnis der Extraktivstoffe der
Muskeln. II. Mitteilung. Über das Carnitin. Hoppe-Seyler´s Zeitschrift für
physiologische Chemie 1905; 45: 326–330.
[3]
Evans A. M., Fornasini G.: Pharmacokinetics of L-carnitine. Clin
Pharmacokinet 2003; 42: 941–967.
[4]
Pietrzak I., Opala G.: Rola karnityny w przemianie lipidowej człowieka.
Wiad. Lek 1998; 51: 71–75.
[5]
Bach A. C., Schirardin H., Sihr M. O., et al.: Free and total carnitine in
human serum after oral ingestion of L-carnitine. Diabete Metab 1983; 9:
121–124.
[6]
Borum P. R.: Carnitine in neonatal nutrition. J Child Neurol 1995; 10
Suppl 2: 25–31.
[7]
Giovannini M., Agostoni C., Salari P. C.: Is carnitine essential in children?
J Int Med Res 1991; 19: 88–102.
[8]
De Vivo D. C., Bohan T. P., Coulter D. L., et al.: L-carnitine supplementation
in childhood epilepsy: current perspectives. Epilepsia 1998; 39: 1216–
1225.
[9]
Coulter D. L.: Carnitine deficiency in epilepsy: Risk factors and treatment.
J Child Neurol 1995; 10 Suppl 2: 32–39.
[10]
Rebouche C. J., Chenard C. A.: Metabolic fate of dietary carnitine in
human adults: identification and quantification of urinary and fecal
metabolites. J Nutr 1991; 121: 539–546.
[11]
El-Hattab A. W., Scaglia F.: Disorders of carnitine biosynthesis and
transport. Mol Genet Metab 2015; 116: 107–112.
[12]
Carter A. L., Abney T. O., Lapp D. F.: Biosynthesis and metabolism of
carnitine. J Child Neurol 1995; 10 Suppl 2: 3–7.
[13]
Bremer J.: Carnitine--metabolism and functions. Physiol Rev 1983; 63:
1420–1480.
[14]
Ramsay R. R., Gandour R. D., van der Leij F. R.: Molecular enzymology
of carnitine transfer and transport. Biochim Biophys Acta 2001; 1546:
21–43.
[15]
Tein I.: Role of carnitine and fatty acid oxidation and its defects in
infantile epilepsy. J Child Neurol 2002; 17 Suppl 3: 7–82.
[16]
Arenas J., Rubio J.C., Martin M. A., et al.: Biological roles of L-carnitine
in perinatal metabolism. Early Hum Dev 1998; 53 Suppl: 43–50.
[17]
Nalecz K. A., Nalecz M. J.: Carnitine – a known compound, a novel
function in neural cells. Acta Neurobiol Exp (Wars) 1996; 56: 597–609.
[18]
White H. L., Scates P. W.: Acetyl-L-carnitine as a precursor of
acetylcholine. Neurochem Res 1990; 15: 597–601.
[19]
Trappe S. W., Costill D. L., Goodpaster B., et al.: The effects of L-carnitine
supplementation on performance during interval swimming. Int J Sports
Med 1994; 15: 181–185.
[20]
Decombaz J., Deriaz O., Acheson K., et al.: Effect of L-carnitine on
submaximal exercise metabolism after depletion of muscle glycogen.
Med Sci Sports Exerc 1993; 25: 733–740.
[21]
Pons R., De Vivo D. C.: Primary and secondary carnitine deficiency
syndromes. J Child Neurol 1995; 10 Suppl 2: 8–24.
[22]
Matsuda I., Ohtani Y.: Carnitine status in Reye and Reye-like syndromes.
Pediatr Neurol 1986; 2: 90–94.
[23]
Crill C. M., Helms R. A.: The use of carnitine in pediatric nutrition. Nutr
Clin Pract 2007; 22: 204–213.
[24]
Hamed S. A., Abdella M. M.: The risk of asymptomatic hyperammonemia
in children with idiopathic epilepsy treated with valproate: relationship
to blood carnitine status. Epilepsy Res 2009; 86: 32–41.
[25]
Stumpf D. A., Parker W. D., Jr., Angelini C.: Carnitine deficiency, organic
acidemias, and Reye’s syndrome. Neurology 1985; 35: 1041–1045.
[26]
Fliciński J., Steinborn B.: Wtórne niedobory i możliwości suplementacji
L-karnityny w praktyce neurologa. Neurol Dziec 2016; 50 [w druku]
[27]
Scholte H. R., Rodrigues Pereira R., de Jonge P. C., et al.: Primary
carnitine deficiency. J Clin Chem Clin Biochem 1990; 28: 351–357.
[28]
Lamhonwah A. M., Olpin S. E., Pollitt R. J., et al.: Novel OCTN2
mutations: no genotype-phenotype correlations: early carnitine therapy
prevents cardiomyopathy. Am J Med Genet 2002; 111: 271–284.
[29]
Tobon A.: Metabolic myopathies. Continuum (Minneap Minn) 2013; 19:
1571–1597.
[30]
Sharp L. J., Haller R. G.: Metabolic and mitochondrial myopathies.
Neurol Clin 2014; 32: 777–799.
[31]
Magoulas P. L., El-Hattab A. W.: Systemic primary carnitine deficiency:
an overview of clinical manifestations, diagnosis, and management.
Orphanet J Rare Dis 2012; 7: 68.
[32]
Rasmussen J., Nielsen O. W., Janzen N., et al.: Carnitine levels in 26,462
individuals from the nationwide screening program for primary carnitine
deficiency in the Faroe Islands. J Inherit Metab Dis 2014; 37: 215–222.
[33]
Koizumi A., Nozaki J., Ohura T., et al.: Genetic epidemiology of the
carnitine transporter OCTN2 gene in a Japanese population and
phenotypic characterization in Japanese pedigrees with primary
systemic carnitine deficiency. Hum Mol Genet 1999; 8: 2247–2254.
[34]
Wilcken B., Wiley V., Hammond J., et al.: Screening newborns for inborn
errors of metabolism by tandem mass spectrometry. N Engl J Med
2003; 348: 2304–2312.
[35]
Stanley C. A.: Carnitine deficiency disorders in children. Ann N Y Acad
Sci 2004; 1033: 42–51.
[36]
Scaglia F., Wang Y., Longo N.: Functional characterization of the carnitine
transporter defective in primary carnitine deficiency. Arch Biochem
Biophys 1999; 364: 99–106.
[37]
Li F. Y., El-Hattab A. W., Bawle E. V., et al.: Molecular spectrum of
SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated
for systemic carnitine deficiency. Hum Mutat 2010; 31: 1632–1651.
[38]
Coates P. M., Hale D. E., Stanley C. A., et al.: Systemic carnitine
deficiency simulating Reye syndrome. J Pediatr 1984; 105: 679.
[39]
Cruse R. P., Di Mauro S., Towfighi J., et al.: Familial systemic carnitine
deficiency. Arch Neurol 1984; 41: 301–305.
[40]
Hale D. E., Cruse R. P., Engel A.: Familial systemic carnitine deficiency.
Arch Neurol 1985; 42: 1133.
[41]
Tripp M. E., Katcher M. L., Peters H. A., et al.: Systemic carnitine
deficiency presenting as familial endocardial fibroelastosis: a treatable
cardiomyopathy. N Engl J Med 1981; 305: 385–390.
[42]
Wilcken B., Wiley V., Sim K. G., et al.: Carnitine transporter defect
diagnosed by newborn screening with electrospray tandem mass
spectrometry. J Pediatr 2001; 138: 581–584.
[43]
Scaglia F., Longo N.: Primary and secondary alterations of neonatal
carnitine metabolism. Semin Perinatol 1999; 23: 152–161.
[44]
El-Hattab A. W., Li F. Y., Shen J., et al.: Maternal systemic primary
carnitine deficiency uncovered by newborn screening: clinical,
biochemical, and molecular aspects. Genet Med 2010; 12: 19–24.
[45]
Lee N. C., Tang N. L., Chien Y. H., et al.: Diagnoses of newborns and
mothers with carnitine uptake defects through newborn screening. Mol
Genet Metab 2010; 100: 46–50.
[46]
Schoderbeck M., Auer B., Legenstein E., et al.: Pregnancy-related
changes of carnitine and acylcarnitine concentrations of plasma and
erythrocytes. J Perinat Med 1995; 23: 477–485.
[47]
Amat di San Filippo C., Taylor M. R., Mestroni L., et al.: Cardiomyopathy
and carnitine deficiency. Mol Genet Metab 2008; 94: 162–166.
[48]
Scaglia F., Wang Y., Singh R. H., et al.: Defective urinary carnitine
transport in heterozygotes for primary carnitine deficiency. Genet Med
1998; 1: 34–39.
[49]
Cano A., Ovaert C., Vianey-Saban C., et al.: Carnitine membrane
transporter deficiency: a rare treatable cause of cardiomyopathy and
anemia. Pediatr Cardiol 2008; 29: 163–165.
[50]
Erguven M., Yilmaz O., Koc S., et al.: A case of early diagnosed carnitine
deficiency presenting with respiratory symptoms. Ann Nutr Metab
2007; 51: 331–334.
[51]
De Biase I., Champaigne N. L., Schroer R., et al.: Primary Carnitine
Deficiency Presents Atypically with Long QT Syndrome: A Case Report.
JIMD Rep 2012; 2: 87–90.
[52]
Wang Y., Korman S. H., Ye J., et al.: Phenotype and genotype variation in
primary carnitine deficiency. Genet Med 2001; 3: 387–392.
[53]
Longo N., Amat di San Filippo C., Pasquali M.: Disorders of carnitine
transport and the carnitine cycle. Am J Med Genet C Semin Med Genet
2006; 142C: 77–85.
[54]
Shapira Y., Glick B., Harel S., et al.: Infantile idiopathic myopathic
carnitine deficiency: treatment with L-carnitine. Pediatr Neurol 1993; 9:
35–38.
[55]
Angelini C., Trevisan C., Isaya G., et al.: Clinical varieties of carnitine and
carnitine palmitoyltransferase deficiency. Clin Biochem 1987; 20: 1–7.