Lopaschuk GD, et al. Myocardial fatty acid metabolism in health and disease. Physiol Rev. 2010;90(1):207–58.
CAS
PubMed
Article
Google Scholar
Bartlett K, Eaton S. Mitochondrial β-oxidation. Eur J Biochem. 2004;271(3):462–9.
CAS
PubMed
Article
Google Scholar
Grevengoed TJ, Klett EL, Coleman RA. Acyl-CoA metabolism and partitioning. Annu Rev Nutr. 2014;34:1–30.
CAS
PubMed
PubMed Central
Article
Google Scholar
Swigonova Z, Mohsen AW, Vockley J. Acyl-CoA dehydrogenases: dynamic history of protein family evolution. J Mol Evol. 2009;69(2):176–93.
CAS
PubMed
PubMed Central
Article
Google Scholar
Wanders RJ, et al. The enzymology of mitochondrial fatty acid beta-oxidation and its application to follow-up analysis of positive neonatal screening results. J Inherit Metab Dis. 2010;33(5):479–94.
CAS
PubMed
PubMed Central
Article
Google Scholar
Chegary M, et al. Mitochondrial long chain fatty acid beta-oxidation in man and mouse. Biochim Biophys Acta. 2009;1791(8):806–15.
CAS
PubMed
PubMed Central
Article
Google Scholar
Hale DE, Batshaw ML, Coates PM, Frerman FE, Goodman SI, Singh I, et al. Long-chain acyl coenzyme a dehydrogenase deficiency: an inherited cause of nonketotic hypoglycemia. Pediatr Res. 1985;19(7):666–71.
CAS
PubMed
Article
Google Scholar
Indo Y, Coates PM, Hale DE, Tanaka K. Immunochemical characterization of variant long-chain acyl-CoA dehydrogenase in cultured fibroblasts from nine patients with long-chain acyl-CoA dehydrogenase deficiency. Pediatr Res. 1991;30(3):211–5.
CAS
PubMed
Article
Google Scholar
Yamaguchi S, Indo Y, Coates PM, Hashimoto T, Tanaka K. Identification of very-long-chain acyl-CoA dehydrogenase deficiency in three patients previously diagnosed with long-chain acyl-CoA dehydrogenase deficiency. Pediatr Res. 1993;34(1):111–3.
CAS
PubMed
Article
Google Scholar
Houten SM, Wanders RJ. A general introduction to the biochemistry of mitochondrial fatty acid beta-oxidation. J Inherit Metab Dis. 2010;33(5):469–77.
CAS
PubMed
PubMed Central
Article
Google Scholar
Houten SM, Violante S, Ventura FV, Wanders RJA. The biochemistry and physiology of mitochondrial fatty acid beta-oxidation and its genetic disorders. Annu Rev Physiol. 2016;78:23–44.
CAS
PubMed
Article
Google Scholar
Schulz H. Regulation of fatty acid oxidation in heart. J Nutr. 1994;124(2):165–71.
CAS
PubMed
Article
Google Scholar
Edmond J, Robbins RA, Bergstrom JD, Cole RA, de Vellis J. Capacity for substrate utilization in oxidative metabolism by neurons, astrocytes, and oligodendrocytes from developing brain in primary culture. J Neurosci Res. 1987;18(4):551–61.
CAS
PubMed
Article
Google Scholar
Jernberg JN, Bowman CE, Wolfgang MJ, Scafidi S. Developmental regulation and localization of carnitine palmitoyltransferases (CPTs) in rat brain. J Neurochem. 2017;142(3):407–19.
CAS
PubMed
PubMed Central
Article
Google Scholar
Oey NA, et al. Long-chain fatty acid oxidation during early human development. Pediatr Res. 2005;57(6):755–9.
CAS
PubMed
Article
Google Scholar
DiMauro S, DiMauro PMM. Muscle carnitine Palmityltransferase deficiency and Myoglobinuria. Science. 1973;182(4115):929–31.
CAS
PubMed
Article
Google Scholar
Izai K, Uchida Y, Orii T, Yamamoto S, Hashimoto T. Novel fatty acid beta-oxidation enzymes in rat liver mitochondria. I. Purification and properties of very-long-chain acyl-coenzyme a dehydrogenase. J Biol Chem. 1992;267(2):1027–33.
CAS
PubMed
Google Scholar
Karpati G, et al. The syndrome of systemic carnitine deficiency. Clinical, morphologic, biochemical, and pathophysiologic features. Neurology. 1975;25(1):16–24.
CAS
PubMed
Article
Google Scholar
Wanders RJ, et al. Human trifunctional protein deficiency: a new disorder of mitochondrial fatty acid beta-oxidation. Biochem Biophys Res Commun. 1992;188(3):1139–45.
CAS
PubMed
Article
Google Scholar
Bonnet D, et al. Arrhythmias and conduction defects as presenting symptoms of fatty acid oxidation disorders in children. Circulation. 1999;100(22):2248–53.
CAS
PubMed
Article
Google Scholar
Spiekerkoetter U, et al. Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop. J Inherit Metab Dis. 2009;32(4):488–97.
CAS
PubMed
Article
Google Scholar
Spiekerkoetter U. Mitochondrial fatty acid oxidation disorders: clinical presentation of long-chain fatty acid oxidation defects before and after newborn screening. J Inherit Metab Dis. 2010;33(5):527–32.
CAS
PubMed
Article
Google Scholar
Baruteau J, et al. Clinical and biological features at diagnosis in mitochondrial fatty acid beta-oxidation defects: a French pediatric study of 187 patients. J Inherit Metab Dis. 2013;36(5):795–803.
CAS
PubMed
Article
Google Scholar
Baruteau J, et al. Clinical and biological features at diagnosis in mitochondrial fatty acid beta-oxidation defects: a French pediatric study from 187 patients. Complementary data. J Inherit Metab Dis. 2014;37(1):137–9.
PubMed
Article
Google Scholar
Saudubray JM, et al. Recognition and management of fatty acid oxidation defects: a series of 107 patients. J Inherit Metab Dis. 1999;22(4):488–502.
CAS
PubMed
Article
Google Scholar
Vianey-Saban C, et al. Mitochondrial very-long-chain acyl-coenzyme a dehydrogenase deficiency: clinical characteristics and diagnostic considerations in 30 patients. Clin Chim Acta. 1998;269(1):43–62.
CAS
PubMed
Article
Google Scholar
Das AM, et al. Secondary respiratory chain defect in a boy with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: possible diagnostic pitfalls. Eur J Pediatr. 2000;159(4):243–6.
CAS
PubMed
Article
Google Scholar
Glasgow AM, et al. Hypoglycemia, hepatic dysfunction, muscle weakness, cardiomyopathy, free carnitine deficiency and long-chain acylcarnitine excess responsive to medium chain triglyceride diet. Pediatr Res. 1983;17(5):319–26.
CAS
PubMed
Article
Google Scholar
Cox GF, et al. Reversal of severe hypertrophic cardiomyopathy and excellent neuropsychologic outcome in very-long-chain acyl-coenzyme a dehydrogenase deficiency. J Pediatr. 1998;133(2):247–53.
CAS
PubMed
Article
Google Scholar
Sharef SW, Al-Senaidi K, Joshi SN. Successful treatment of cardiomyopathy due to very long-chain acyl-CoA dehydrogenase deficiency: first case report from Oman with literature review. Oman Med J. 2013;28(5):354–6.
PubMed
PubMed Central
Article
Google Scholar
Kluge S, Kühnelt P, Block A, Merkel M, Gocht A, Lukacs Z, et al. A young woman with persistent hypoglycemia, rhabdomyolysis, and coma: recognizing fatty acid oxidation defects in adults. Crit Care Med. 2003;31(4):1273–6.
PubMed
Article
Google Scholar
Schaefer J, et al. Characterisation of carnitine palmitoyltransferases in patients with a carnitine palmitoyltransferase deficiency: implications for diagnosis and therapy. J Neurol Neurosurg Psychiatry. 1997;62(2):169–76.
CAS
PubMed
PubMed Central
Article
Google Scholar
Violante S, et al. Carnitine palmitoyltransferase 2: new insights on the substrate specificity and implications for acylcarnitine profiling. Biochim Biophys Acta (BBA) - Mol Basis Dis. 2010;1802(9):728–32.
CAS
Article
Google Scholar
Millington DS, et al. Application of fast atom bombardment with tandem mass spectrometry and liquid chromatography/mass spectrometry to the analysis of acylcarnitines in human urine, blood, and tissue. Anal Biochem. 1989;180(2):331–9.
CAS
PubMed
Article
Google Scholar
Rashed MS, et al. Diagnosis of inborn errors of metabolism from blood spots by acylcarnitines and amino acids profiling using automated electrospray tandem mass spectrometry. Pediatr Res. 1995;38(3):324–31.
CAS
PubMed
Article
Google Scholar
Topcu Y, et al. Importance of acylcarnitine profile analysis for disorders of lipid metabolism in adolescent patients with recurrent rhabdomyolysis: report of two cases. Ann Indian Acad Neurol. 2014;17(4):437–40.
PubMed
PubMed Central
Article
Google Scholar
Borch L, et al. Normal levels of plasma free carnitine and Acylcarnitines in follow-up samples from a Presymptomatic case of carnitine Palmitoyl transferase 1 (CPT1) deficiency detected through newborn screening in Denmark. JIMD Rep. 2012;3:11–5.
PubMed
Article
Google Scholar
Browning MF, et al. Normal acylcarnitine levels during confirmation of abnormal newborn screening in long-chain fatty acid oxidation defects. J Inherit Metab Dis. 2005;28(4):545–50.
CAS
PubMed
Article
PubMed Central
Google Scholar
Burrage LC, et al. Elevations of C14:1 and C14:2 plasma Acylcarnitines in fasted children: a diagnostic dilemma. J Pediatr. 2016;169:208–213.e2.
CAS
PubMed
Article
PubMed Central
Google Scholar
Spiekerkoetter U, et al. Lethal undiagnosed very long-chain acyl-CoA dehydrogenase deficiency with mild C14-Acylcarnitine abnormalities on newborn screening. JIMD Rep. 2012;6:113–5.
CAS
PubMed
PubMed Central
Article
Google Scholar
Ventura FV, et al. Quantitative acylcarnitine profiling in fibroblasts using [U-13C] palmitic acid: an improved tool for the diagnosis of fatty acid oxidation defects. Clin Chim Acta. 1999;281(1–2):1–17.
CAS
PubMed
Article
Google Scholar
Longo N, Frigeni M, Pasquali M. Carnitine transport and fatty acid oxidation. Biochim Biophys Acta. 2016;1863(10):2422–35.
CAS
PubMed
PubMed Central
Article
Google Scholar
McHugh D, et al. Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project. Genet Med. 2011;13(3):230–54.
PubMed
Article
Google Scholar
Fingerhut R, et al. Hepatic carnitine palmitoyltransferase I deficiency: acylcarnitine profiles in blood spots are highly specific. Clin Chem. 2001;47(10):1763–8.
CAS
PubMed
Google Scholar
Gempel K, et al. Screening for carnitine Palmitoyltransferase II deficiency by tandem mass spectrometry. J Inherit Metab Dis. 2002;25(1):17–27.
CAS
PubMed
Article
Google Scholar
Diekman E, et al. The newborn screening paradox: sensitivity vs. Overdiagnosis in VLCAD deficiency. JIMD Rep. 2016;27:101–6.
PubMed
Article
Google Scholar
Sander J, et al. Neonatal screening for defects of the mitochondrial trifunctional protein. Mol Genet Metab. 2005;85(2):108–14.
CAS
PubMed
Article
Google Scholar
Manning NJ, et al. A comparison of [9,10-3H]palmitic and [9,10-3H]myristic acids for the detection of defects of fatty acid oxidation in intact cultured fibroblasts. J Inherit Metab Dis. 1990;13(1):58–68.
CAS
PubMed
Article
Google Scholar
Olpin SE, et al. Improved detection of long-chain fatty acid oxidation defects in intact cells using [9,10-3H]oleic acid. J Inherit Metab Dis. 1997;20(3):415–9.
CAS
PubMed
Article
Google Scholar
Gregersen N, et al. Mutation analysis in mitochondrial fatty acid oxidation defects: exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship. Hum Mutat. 2001;18(3):169–89.
CAS
PubMed
Article
Google Scholar
Miller MJ, et al. Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States. Mol Genet Metab. 2015;116(3):139–45.
CAS
PubMed
PubMed Central
Article
Google Scholar
Bleeker JC, Kok IL, Ferdinandusse S, et al. Proposal for an individualized dietary strategy in patients with very long-chain acyl-CoA dehydrogenase deficiency. J Inherit Metab Dis 2018. https://doi.org/10.1007/s10545-018-0164-5.
Pena LD, et al. Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database. Mol Genet Metab. 2016;118:272–81.
CAS
PubMed
PubMed Central
Article
Google Scholar
Loeber JG, et al. Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 1. From blood spot to screening result. J Inherit Metab Dis. 2012;35(4):603–11.
PubMed
Article
Google Scholar
Lindner M, Hoffmann GF, Matern D. Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting. J Inherit Metab Dis. 2010;33(5):521–6.
CAS
PubMed
Article
Google Scholar
de Sain-van der Velden MG, et al. Differences between acylcarnitine profiles in plasma and bloodspots. Mol Genet Metab. 2013;110(1–2):116–21.
PubMed
Article
CAS
Google Scholar
Hall PL, et al. Postanalytical tools improve performance of newborn screening by tandem mass spectrometry. Genet Med. 2014;16(12):889–95.
CAS
PubMed
PubMed Central
Article
Google Scholar
Lindner M, et al. Efficacy and outcome of expanded newborn screening for metabolic diseases--report of 10 years from south-West Germany. Orphanet J Rare Dis. 2011;6:44.
PubMed
PubMed Central
Article
Google Scholar
Merritt Ii JL, et al. Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening. Mol Genet Metab. 2014;111(4):484–92.
Article
CAS
Google Scholar
Evans M, et al. VLCAD deficiency: follow-up and outcome of patients diagnosed through newborn screening in Victoria. Mol Genet Metab. 2016;118(4):282–7.
CAS
PubMed
Article
Google Scholar
Ryder B, et al. The natural history of elevated tetradecenoyl-L-carnitine detected by newborn screening in New Zealand: implications for very long chain acyl-CoA dehydrogenase deficiency screening and treatment. J Inherit Metab Dis. 2016;39(3):409–14.
CAS
PubMed
Article
Google Scholar
Karall D, et al. Clinical outcome, biochemical and therapeutic follow-up in 14 Austrian patients with long-chain 3-Hydroxy acyl CoA dehydrogenase deficiency (LCHADD). Orphanet J Rare Dis. 2015;10:21.
PubMed
PubMed Central
Article
Google Scholar
De Biase I, et al. Diagnosis, treatment, and clinical outcome of patients with mitochondrial trifunctional protein/long-chain 3-Hydroxy acyl-CoA dehydrogenase deficiency. JIMD Rep. 2017;31:63–71.
PubMed
Article
Google Scholar
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(2):77–85.
CAS
PubMed
PubMed Central
Article
Google Scholar
Makhseed N, et al. Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathy. J Inherit Metab Dis. 2004;27(6):778–80.
CAS
PubMed
Article
Google Scholar
Erguven M, Yılmaz O, Koc S, Cakı S, Ayhan Y, Donmez M, et al. A case of early diagnosed carnitine deficiency presenting with respiratory symptoms. Ann Nutr Metab. 2007;51(4):331–4.
CAS
PubMed
Article
Google Scholar
Wang Y, et al. Phenotype and genotype variation in primary carnitine deficiency. Genet Med. 2001;3(6):387–92.
CAS
PubMed
Article
Google Scholar
Rasmussen J, 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(2):215–22.
CAS
PubMed
Article
Google Scholar
Rasmussen J, Nielsen OW, Lund AM, Køber L, Djurhuus H. Primary carnitine deficiency and pivalic acid exposure causing encephalopathy and fatal cardiac events. J Inherit Metab Dis. 2013;36(1):35–41.
CAS
PubMed
Article
Google Scholar
Koizumi A, 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(12):2247–54.
CAS
PubMed
Article
Google Scholar
Wilcken B, et al. Carnitine transporter defect diagnosed by newborn screening with electrospray tandem mass spectrometry. J Pediatr. 2001;138(4):581–4.
CAS
PubMed
Article
Google Scholar
Vilarinho L, et al. Four years of expanded newborn screening in Portugal with tandem mass spectrometry. J Inherit Metab Dis. 2010;33(Suppl 3):S133–8.
PubMed
Article
Google Scholar
Therrell BL Jr, Lloyd-Puryear MA, Camp KM, Mann MY. Inborn errors of metabolism identified via newborn screening: ten-year incidence data and costs of nutritional interventions for research agenda planning. Mol Genet Metab. 2014;113(1–2):14–26.
CAS
PubMed
PubMed Central
Article
Google Scholar
Schulze A, et al. Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications. Pediatrics. 2003;111(6 Pt 1):1399–406.
PubMed
Article
Google Scholar
El-Hattab AW, et al. Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects. Genet Med. 2010;12(1):19–24.
CAS
PubMed
Article
Google Scholar
Rose EC, et al. Genotype-phenotype correlation in primary carnitine deficiency. Hum Mutat. 2012;33(1):118–23.
CAS
PubMed
Article
Google Scholar
Bougneres PF, et al. Fasting hypoglycemia resulting from hepatic carnitine palmitoyl transferase deficiency. J Pediatr. 1981;98(5):742–6.
CAS
PubMed
Article
Google Scholar
Demaugre F, et al. Hepatic and muscular presentations of carnitine palmitoyl transferase deficiency: two distinct entities. Pediatr Res. 1988;24(3):308–11.
CAS
PubMed
Article
Google Scholar
Vianey-Saban C, et al. Carnitine palmitoyl transferase I deficiency presenting as a Reye-like syndrome without hypoglycaemia. Eur J Pediatr. 1993;152(4):334–8.
CAS
PubMed
Article
Google Scholar
Falik-Borenstein ZC, et al. Brief report: renal tubular acidosis in carnitine palmitoyltransferase type 1 deficiency. N Engl J Med. 1992;327(1):24–7.
CAS
PubMed
Article
Google Scholar
Bergman AJ, et al. Rate-dependent distal renal tubular acidosis and carnitine palmitoyltransferase I deficiency. Pediatr Res. 1994;36(5):582–8.
CAS
PubMed
Article
Google Scholar
Korman SH, et al. Novel metabolic and molecular findings in hepatic carnitine palmitoyltransferase I deficiency. Mol Genet Metab. 2005;86(3):337–43.
CAS
PubMed
Article
Google Scholar
Innes AM, et al. Hepatic carnitine palmitoyltransferase I deficiency presenting as maternal illness in pregnancy. Pediatr Res. 2000;47(1):43–5.
CAS
PubMed
Article
Google Scholar
Skotte L, et al. CPT1A missense mutation associated with fatty acid metabolism and reduced height in Greenlanders. Circ Cardiovasc Genet. 2017;10(3):e001618.
CAS
PubMed
Article
Google Scholar
Prasad C, et al. Hepatic carnitine palmitoyl transferase 1 (CPT1 a) deficiency in north American Hutterites (Canadian and American): evidence for a founder effect and results of a pilot study on a DNA-based newborn screening program. Mol Genet Metab. 2001;73(1):55–63.
CAS
PubMed
Article
Google Scholar
Fohner AE, et al. Carnitine palmitoyltransferase 1A P479L and infant death: policy implications of emerging data. Genet Med. 2017;19(8):851–7.
PubMed
PubMed Central
Article
CAS
Google Scholar
Collins SA, et al. Causes and risk factors for infant mortality in Nunavut, Canada 1999-2011. BMC Pediatr. 2012;12:190.
PubMed
PubMed Central
Article
Google Scholar
Sinclair GB, et al. Carnitine palmitoyltransferase I and sudden unexpected infant death in British Columbia first nations. Pediatrics. 2012;130(5):e1162–9.
PubMed
Article
Google Scholar
Gessner BD, et al. Evidence for an association between infant mortality and homozygosity for the arctic variant of carnitine palmitoyltransferase 1A. Genet Med. 2016;18(9):933–9.
CAS
PubMed
PubMed Central
Article
Google Scholar
Gessner BD, et al. Evidence for an association between infant mortality and a carnitine palmitoyltransferase 1A genetic variant. Pediatrics. 2010;126(5):945–51.
PubMed
Article
Google Scholar
Morillas M, et al. Structural model of a malonyl-CoA-binding site of carnitine octanoyltransferase and carnitine palmitoyltransferase I: mutational analysis of a malonyl-CoA affinity domain. J Biol Chem. 2002;277(13):11473–80.
CAS
PubMed
Article
Google Scholar
Brown NF, et al. Molecular characterization of L-CPT I deficiency in six patients: insights into function of the native enzyme. J Lipid Res. 2001;42(7):1134–42.
CAS
PubMed
Google Scholar
Morillas M, et al. Identification of conserved amino acid residues in rat liver carnitine palmitoyltransferase I critical for malonyl-CoA inhibition. Mutation of methionine 593 abolishes malonyl-CoA inhibition. J Biol Chem. 2003;278(11):9058–63.
CAS
PubMed
Article
Google Scholar
Butler JC, McLaughlin J. Carnitine palmitoyl transferase-1A deficiency rates in alaska. State of alaska bulletin 2006;19. Retrieved from http://www.epi.Alaska.gov. Accessed on 12 January 2018.
Chien YH, et al. Fatty acid oxidation disorders in a chinese population in Taiwan. JIMD Rep. 2013;11:165–72.
PubMed
PubMed Central
Article
Google Scholar
Sim KG, et al. Carnitine palmitoyltransferase I deficiency in neonate identified by dried blood spot free carnitine and acylcarnitine profile. J Inherit Metab Dis. 2001;24(1):51–9.
CAS
PubMed
Article
Google Scholar
Stanley CA, et al. Elevated plasma carnitine in the hepatic form of carnitine palmitoyltransferase-1 deficiency. J Inherit Metab Dis. 1992;15(5):785–9.
CAS
PubMed
Article
Google Scholar
van Vlies N, et al. An improved enzyme assay for carnitine palmitoyl transferase I in fibroblasts using tandem mass spectrometry. Mol Genet Metab. 2007;90(1):24–9.
PubMed
Article
CAS
Google Scholar
IJlst L, et al. Molecular basis of hepatic carnitine palmitoyltransferase I deficiency. J Clin Invest. 1998;102(3):527–31.
CAS
PubMed
PubMed Central
Article
Google Scholar
Gobin S, et al. Functional and structural basis of carnitine palmitoyltransferase 1A deficiency. J Biol Chem. 2003;278(50):50428–34.
CAS
PubMed
Article
Google Scholar
Gessner BD, et al. Prevalence and distribution of the c.1436C-->T sequence variant of carnitine palmitoyltransferase 1A among Alaska Native infants. J Pediatr. 2011;158(1):124–9.
CAS
PubMed
Article
Google Scholar
Vitoria I, et al. Carnitine-acylcarnitine translocase deficiency: experience with four cases in Spain and review of the literature. JIMD Rep. 2015;20:11–20.
PubMed
PubMed Central
Article
Google Scholar
Rubio-Gozalbo ME, et al. Carnitine-acylcarnitine translocase deficiency: case report and review of the literature. Acta Paediatr. 2003;92(4):501–4.
CAS
PubMed
Article
Google Scholar
Wang GL, et al. Expanded molecular features of carnitine acyl-carnitine translocase (CACT) deficiency by comprehensive molecular analysis. Mol Genet Metab. 2011;103(4):349–57.
CAS
PubMed
Article
Google Scholar
IJlst L, et al. Functional analysis of mutant human carnitine acylcarnitine translocases in yeast. Biochem Biophys Res Commun. 2001;280(3):700–6.
CAS
PubMed
Article
Google Scholar
Bonnefont JP, et al. Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects. Mol Asp Med. 2004;25(5–6):495–520.
CAS
Article
Google Scholar
Albers S, et al. Detection of neonatal carnitine palmitoyltransferase II deficiency by expanded newborn screening with tandem mass spectrometry. Pediatrics. 2001;107(6):E103.
CAS
PubMed
Article
Google Scholar
North KN, et al. Lethal neonatal deficiency of carnitine palmitoyltransferase II associated with dysgenesis of the brain and kidneys. J Pediatr. 1995;127(3):414–20.
CAS
PubMed
Article
Google Scholar
Zinn AB, et al. Carnitine Palmitoyltransferase-B (Cpt B) deficiency - a heritable cause of neonatal cardiomyopathy and dysgenesis of the kidney. Pediatr Res. 1991;29(4):A73.
Google Scholar
Witt DR, et al. Carnitine Palmitoyl transferase-type 2 deficiency - 2 new cases and successful prenatal-diagnosis. Am J Hum Genet. 1991;49(4):109–9.
Norum KR. Palmityl-Coa:carnitine palmityltransferase. purification from calf-liver mitochondria and some properties of the enzyme. Biochim Biophys Acta. 1964;89:95–108.
CAS
PubMed
Google Scholar
Zierz S, Engel AG. Regulatory properties of a mutant carnitine palmitoyltransferase in human skeletal muscle. Eur J Biochem. 1985;149(1):207–14.
CAS
PubMed
Article
Google Scholar
Olpin SE, et al. Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency. J Inherit Metab Dis. 2003;26(6):543–57.
CAS
PubMed
Article
Google Scholar
Thuillier L, et al. Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency. Hum Mutat. 2003;21(5):493–501.
CAS
PubMed
Article
Google Scholar
Bonnefont JP, et al. Carnitine palmitoyltransferase deficiencies. Mol Genet Metab. 1999;68(4):424–40.
CAS
PubMed
Article
Google Scholar
Joshi PR, Deschauer M, Zierz S. Carnitine palmitoyltransferase II (CPT II) deficiency: genotype-phenotype analysis of 50 patients. J Neurol Sci. 2014;338(1–2):107–11.
CAS
PubMed
Article
Google Scholar
Isackson PJ, Bennett MJ, Vladutiu GD. Identification of 16 new disease-causing mutations in the CPT2 gene resulting in carnitine palmitoyltransferase II deficiency. Mol Genet Metab. 2006;89(4):323–31.
CAS
PubMed
Article
Google Scholar
Ficicioglu C, et al. Very long-chain acyl-CoA dehydrogenase deficiency in a patient with normal newborn screening by tandem mass spectrometry. J Pediatr. 2010;156(3):492–4.
CAS
PubMed
Article
Google Scholar
Pryce JW, et al. Changing patterns of infant death over the last 100 years: autopsy experience from a specialist children's hospital. J R Soc Med. 2012;105(3):123–30.
CAS
PubMed
PubMed Central
Article
Google Scholar
Boneh A, et al. VLCAD deficiency: pitfalls in newborn screening and confirmation of diagnosis by mutation analysis. Mol Genet Metab. 2006;88(2):166–70.
CAS
PubMed
Article
Google Scholar
Pena LD, et al. Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database. Mol Genet Metab. 2016;118(4):272–81.
CAS
PubMed
PubMed Central
Article
Google Scholar
Mathur A, et al. Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death. Circulation. 1999;99(10):1337–43.
CAS
PubMed
Article
Google Scholar
Andresen BS, et al. Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency. Am J Hum Genet. 1999;64(2):479–94.
CAS
PubMed
PubMed Central
Article
Google Scholar
Diekman EF, et al. Fatty acid oxidation flux predicts the clinical severity of VLCAD deficiency. Genet Med. 2015;17(12):989–94.
CAS
PubMed
Article
Google Scholar
Das AM, et al. Isolated Mitochondrial Long-Chain Ketoacyl-CoA Thiolase Deficiency Resulting from Mutations in the HADHB Gene. Clin Chem. 2006;52(3):530–4.
CAS
PubMed
Article
Google Scholar
Tyni T, et al. Pathology of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation. Pediatr Pathol Lab Med. 1997;17(3):427–47.
CAS
PubMed
Article
Google Scholar
den Boer ME, et al. Mitochondrial trifunctional protein deficiency: a severe fatty acid oxidation disorder with cardiac and neurologic involvement. J Pediatr. 2003;142(6):684–9.
Article
CAS
Google Scholar
den Boer ME, et al. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: clinical presentation and follow-up of 50 patients. Pediatrics. 2002;109(1):99–104.
Article
Google Scholar
Tyni T, Pihko H, Kivela T. Ophthalmic pathology in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation. Curr Eye Res. 1998;17(6):551–9.
CAS
PubMed
Article
Google Scholar
Boese EA, et al. Characterization of Chorioretinopathy associated with mitochondrial trifunctional protein disorders: long-term follow-up of 21 cases. Ophthalmology. 2016;123(10):2183–95.
PubMed
PubMed Central
Article
Google Scholar
Diekman EF, et al. Necrotizing enterocolitis and respiratory distress syndrome as first clinical presentation of mitochondrial trifunctional protein deficiency. JIMD Rep. 2013;7:1–6.
PubMed
Google Scholar
Dionisi-Vici C, et al. Hypoparathyroidism in mitochondrial trifunctional protein deficiency. J Pediatr. 1996;129(1):159–62.
CAS
PubMed
Article
Google Scholar
Tyni T, et al. Hypoparathyroidism in a patient with long-chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency caused by the G1528C mutation. J Pediatr. 1997;131(5):766–8.
CAS
PubMed
Article
Google Scholar
Labarthe F, Benoist JF, Brivet M, Vianey-Saban C, Despert F, Ogier de Baulny H. Partial hypoparathyroidism associated with mitochondrial trifunctional protein deficiency. Eur J Pediatr. 2006;165(6):389–91.
PubMed
Article
Google Scholar
Wilcken B, et al. Pregnancy and fetal long-chain 3-hydroxyacyl coenzyme a dehydrogenase deficiency. Lancet. 1993;341(8842):407–8.
CAS
PubMed
Article
Google Scholar
Tyni T, Ekholm E, Pihko H. Pregnancy complications are frequent in long-chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency. Am J Obstet Gynecol. 1998;178(3):603–8.
CAS
PubMed
Article
Google Scholar
Liu J, Ghaziani TT, Wolf JL. Acute fatty liver disease of pregnancy: updates in pathogenesis, diagnosis, and management. Am J Gastroenterol. 2017;112(6):838–46.
CAS
PubMed
Article
Google Scholar
Ibdah JA. Acute fatty liver of pregnancy: an update on pathogenesis and clinical implications. World J Gastroenterol. 2006;12(46):7397–404.
CAS
PubMed
PubMed Central
Article
Google Scholar
Bartha JL, et al. Decreased mitochondrial fatty acid oxidation in placentas from women with preeclampsia. Placenta. 2012;33(2):132–4.
CAS
PubMed
Article
Google Scholar
Moorthie S, et al. Systematic review and meta-analysis to estimate the birth prevalence of five inherited metabolic diseases. J Inherit Metab Dis. 2014;37(6):889–98.
CAS
PubMed
Article
Google Scholar
Spiekerkoetter U, et al. General mitochondrial trifunctional protein (TFP) deficiency as a result of either alpha- or beta-subunit mutations exhibits similar phenotypes because mutations in either subunit alter TFP complex expression and subunit turnover. Pediatr Res. 2004;55(2):190–6.
CAS
PubMed
Article
Google Scholar
IJlst L, et al. Common missense mutation G1528C in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Characterization and expression of the mutant protein, mutation analysis on genomic DNA and chromosomal localization of the mitochondrial trifunctional protein alpha subunit gene. J Clin Invest. 1996;98(4):1028–33.
CAS
PubMed
PubMed Central
Article
Google Scholar
Spiekerkoetter U, et al. Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop. J Inherit Metab Dis. 2009;32(4):498–505.
CAS
PubMed
Article
Google Scholar
Spiekerkoetter U, Mayatepek E. Update on mitochondrial fatty acid oxidation disorders. J Inherit Metab Dis. 2010;33(5):467–8.
PubMed
Article
Google Scholar
Arnold GL, et al. A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency. Mol Genet Metab. 2009;96(3):85–90.
CAS
PubMed
PubMed Central
Article
Google Scholar
Bach AC, Babayan VK. Medium-chain triglycerides: an update. Am J Clin Nutr. 1982;36(5):950–62.
CAS
PubMed
Article
Google Scholar
Hoffmann L, et al. VLCAD enzyme activity determinations in newborns identified by screening: a valuable tool for risk assessment. J Inherit Metab Dis. 2012;35(2):269–77.
CAS
PubMed
Article
Google Scholar
Spiekerkoetter U, et al. Current issues regarding treatment of mitochondrial fatty acid oxidation disorders. J Inherit Metab Dis. 2010;33(5):555–61.
CAS
PubMed
Article
Google Scholar
Roussel J, et al. Carnitine deficiency induces a short QT syndrome. Heart Rhythm. 2016;13(1):165–74.
PubMed
Article
Google Scholar
Rijlaarsdam RS, et al. Ventricular fibrillation without overt cardiomyopathy as first presentation of organic cation transporter 2-deficiency in adolescence. Pacing Clin Electrophysiol. 2004;27(5):675–6.
PubMed
Article
Google Scholar
Chalmers RA, et al. Urinary excretion of l-carnitine and Acylcarnitines by patients with disorders of organic acid metabolism: evidence for secondary insufficiency of l-carnitine. Pediatr Res. 1984;18:1325–8.
CAS
PubMed
Article
Google Scholar
Nasser, M., et al., Carnitine supplementation for inborn errors of metabolism. Cochrane Database Syst Rev, 2012(2): p. Cd006659.
Corr PB, Heathers GP, Yamada KA. Mechanisms contributing to the arrhythmogenic influences of alpha 1-adrenergic stimulation in the ischemic heart. Am J Med. 1989;87(2A):19S–25S.
CAS
PubMed
Article
Google Scholar
Exil VJ, Gardner CD, Rottman JN, Sims H, Bartelds B, Khuchua Z, et al. Abnormal mitochondrial bioenergetics and heart rate dysfunction in mice lacking very-long-chain acyl-CoA dehydrogenase. Am J Physiol Heart Circ Physiol. 2006;290(3):H1289–97.
CAS
PubMed
Article
Google Scholar
Watanabe K, et al. Two siblings with very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency suffered from rhabdomyolysis after l-carnitine supplementation. Mol Genet Metab Rep. 2018;15:121–3.
CAS
PubMed
PubMed Central
Article
Google Scholar
Angelini C, et al. Task force guidelines handbook: EFNS guidelines on diagnosis and management of fatty acid mitochondrial disorders. Eur J Neurol. 2006;13(9):923–9.
CAS
PubMed
Article
Google Scholar
Wilcken B. Fatty acid oxidation disorders: outcome and long-term prognosis. J Inherit Metab Dis. 2010;33(5):501–6.
CAS
PubMed
Article
Google Scholar
Lund AM, et al. Clinical and biochemical monitoring of patients with fatty acid oxidation disorders. J Inherit Metab Dis. 2010;33(5):495–500.
CAS
PubMed
Article
Google Scholar
Bakermans AJ, et al. Myocardial energy shortage and unmet anaplerotic needs in the fasted long-chain acyl-CoA dehydrogenase knockout mouse. Cardiovasc Res. 2013;100(3):441–9.
CAS
PubMed
Article
Google Scholar
Roe CR, Mochel F. Anaplerotic diet therapy in inherited metabolic disease: therapeutic potential. J Inherit Metab Dis. 2006;29(2–3):332–40.
CAS
PubMed
Article
Google Scholar
Gillingham MB, et al. Triheptanoin versus trioctanoin for long-chain fatty acid oxidation disorders: a double blinded, randomized controlled trial. J Inherit Metab Dis. 2017;40(6):831–43.
CAS
PubMed
Article
Google Scholar
Vockley J, et al. Triheptanoin treatment in patients with pediatric cardiomyopathy associated with long chain-fatty acid oxidation disorders. Mol Genet Metab. 2016;119(3):223–31.
CAS
PubMed
PubMed Central
Article
Google Scholar
Roe CR, et al. Treatment of cardiomyopathy and rhabdomyolysis in long-chain fat oxidation disorders using an anaplerotic odd-chain triglyceride. J Clin Invest. 2002;110(2):259–69.
CAS
PubMed
PubMed Central
Article
Google Scholar
Aires V, et al. Stilbenes and resveratrol metabolites improve mitochondrial fatty acid oxidation defects in human fibroblasts. Orphanet J Rare Dis. 2014;9:79.
PubMed
PubMed Central
Article
Google Scholar
Bastin J, Lopes-Costa A, Djouadi F. Exposure to resveratrol triggers pharmacological correction of fatty acid utilization in human fatty acid oxidation-deficient fibroblasts. Hum Mol Genet. 2011;20(10):2048–57.
CAS
PubMed
Article
Google Scholar
Bleeker JC, Houtkooper RH. Sirtuin activation as a therapeutic approach against inborn errors of metabolism. J Inherit Metab Dis. 2016;39:565–72.
CAS
PubMed
PubMed Central
Article
Google Scholar
Djouadi F, et al. Bezafibrate increases very-long-chain acyl-CoA dehydrogenase protein and mRNA expression in deficient fibroblasts and is a potential therapy for fatty acid oxidation disorders. Hum Mol Genet. 2005;14(18):2695–703.
CAS
PubMed
Article
Google Scholar
Djouadi F, et al. Peroxisome proliferator activated receptor delta (PPARdelta) agonist but not PPARalpha corrects carnitine palmitoyl transferase 2 deficiency in human muscle cells. J Clin Endocrinol Metab. 2005;90(3):1791–7.
CAS
PubMed
Article
Google Scholar
Bonnefont JP, et al. Long-term follow-up of bezafibrate treatment in patients with the myopathic form of carnitine palmitoyltransferase 2 deficiency. Clin Pharmacol Ther. 2010;88(1):101–8.
CAS
PubMed
Article
Google Scholar
Orngreen MC, et al. Bezafibrate in skeletal muscle fatty acid oxidation disorders: a randomized clinical trial. Neurology. 2014;82(7):607–13.
CAS
PubMed
PubMed Central
Article
Google Scholar
Orngreen MC, Vissing J, Laforet P. No effect of bezafibrate in patients with CPTII and VLCAD deficiencies. J Inherit Metab Dis. 2015;38(2):373–4.
PubMed
Article
Google Scholar
Van Hove JL, et al. D,L-3-hydroxybutyrate treatment of multiple acyl-CoA dehydrogenase deficiency (MADD). Lancet. 2003;361(9367):1433–5.
PubMed
Article
CAS
Google Scholar
Wüst RC, et al. Ketones and inborn errors of metabolism: old friends revisited. J Inherit Metab Dis. 2017;40(1):3–4.
PubMed
Article
Google Scholar
Cox PJ, et al. Nutritional ketosis alters fuel preference and thereby endurance performance in athletes. Cell Metab. 2016;24(2):256–68.
CAS
PubMed
Article
Google Scholar
Bleeker, J.C., et al., Ketonesters as a Possible Novel Therapeutic Option for Patients With Fatty Acid Oxidation Disorders [abstract]. Abstracts presented at the 13th international congress of inborn errors of metabolism - ICIEM 2017. JIEMS abstract nr. 508, 2017. 5: p. 2326409817722292.