Triheptanoin treatment in patients with pediatric cardiomyopathy associated with long chain-fatty acid oxidation disorders

Molecular Genetics and Metabolism

Volumn 119, Issue 3, 2016, Pages 223-231

  Vockley, J ^a   Charrow, J ^b   Ganesh, J ^c   Eswara, M ^d   Diaz, G A ^e   McCracken, E ^a   Conway, R ^f   Enns, G M ^g   Starr, J ^h   Wang, R ^h   Abdenur, J E ^h   Sanchez de Toledo, J ^a   Marsden, D L ⁱ  

^a CHILDREN S HOSPITAL OF PITTSBURGH   (United States)

^b CHILDREN'S MEMORIAL HOSPITAL   (United States)

^c Department of Urology   (United States)

^d Sutter Medical Center   (United States)

^e MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^f CHILDREN'S HOSPITAL OF MICHIGAN   (United States)

^g LUCILE PACKARD CHILDREN S HOSPITAL   (United States)

^h CHILDREN S HOSPITAL OF ORANGE COUNTY   (United States)

ⁱ ULTRAGENYX PHARMACEUTICAL INC   (United States)

Author keywords

Cardiomyopathy; Fatty acid oxidation disorders; Metabolic disorders; Triheptanoin

Indexed keywords

ACYLCARNITINE; BRAIN NATRIURETIC PEPTIDE; CARNITINE; CARNITINE PALMITOYLTRANSFERASE; CARNITINE PALMITOYLTRANSFERASE I; CARRIER PROTEIN; GLUCOSE; HYPERTENSIVE FACTOR; LONG CHAIN 3 HYDROXYACYL COENZYME A DEHYDROGENASE; LONG CHAIN ACYL COENZYME A DEHYDROGENASE; MEDIUM CHAIN TRIACYLGLYCEROL; NITROGEN; SCAVENGER; TRIHEPTANOIN; FATTY ACID; TRIACYLGLYCEROL;

ABDOMINAL PAIN; ACUTE HEART FAILURE; ADENOVIRUS INFECTION; ADULTHOOD; ARTICLE; ASSISTED VENTILATION; AUTOSOMAL RECESSIVE DISORDER; BRADYCARDIA; CARDIOGENIC SHOCK; CARDIOMEGALY; CARDIOMYOPATHY; CARDIOPULMONARY INSUFFICIENCY; CESAREAN SECTION; CHILD; CHILDHOOD DISEASE; CLINICAL ARTICLE; COMPASSIONATE USE; CONSTIPATION; DEFIBRILLATION; DEHYDRATION; DIET SUPPLEMENTATION; DISEASE SEVERITY; DRUG DOSE INCREASE; DRUG TOLERABILITY; DRUG WITHDRAWAL; ECHOCARDIOGRAPHY; ENERGY METABOLISM; ESSENTIAL FATTY ACID DEFICIENCY; EXTRACORPOREAL OXYGENATION; FATTY ACID BLOOD LEVEL; FATTY ACID OXIDATION; FEEDING DIFFICULTY; FEMALE; GASTROINTESTINAL SYMPTOM; GENE MUTATION; HEART ARREST; HEART CATHETERIZATION; HEART EJECTION FRACTION; HEART FUNCTION; HEART LEFT VENTRICLE FUNCTION; HEART LEFT VENTRICLE HYPERTROPHY; HEART LEFT VENTRICLE MASS; HEART RIGHT VENTRICLE HYPERTROPHY; HEART VENTRICLE FIBRILLATION; HEART VENTRICLE FUNCTION; HELLP SYNDROME; HEPATOMEGALY; HOSPITALIZATION; HUMAN; HYPERAMMONEMIA; HYPERKALEMIA; HYPOGLYCEMIA; HYPOTHERMIA; INBORN ERROR OF METABOLISM; INFANT; INTRAUTERINE GROWTH RETARDATION; LACTIC ACIDOSIS; LEFT VENTRICULAR ASSIST DEVICE; LETHARGY; LONG CHAIN FATTY ACID OXIDATION DISORDER; LUNG HEMORRHAGE; MALE; METABOLIC ACIDOSIS; MORPHOLOGY; MULTIPLE ORGAN FAILURE; MUSCLE TONE; MUSCLE WEAKNESS; NECROTIZING FASCIITIS; NEUTROPENIA; NEWBORN; NEWBORN SCREENING; PERICARDIAL EFFUSION; PERICARDIOTOMY; PHENOTYPE; PRIORITY JOURNAL; RESPIRATORY DISTRESS; RESPIRATORY FAILURE; RESUSCITATION; RHABDOMYOLYSIS; RHINOVIRUS INFECTION; SEPTIC SHOCK; SEPTOSTOMY BALLOON CATHETER; SOLUTIO PLACENTAE; STOMACH TUBE; THORAX RADIOGRAPHY; THROMBOCYTE COUNT; TREATMENT DURATION; VIRAL GASTROENTERITIS; VOMITING; ADOLESCENT; CLINICAL TRIAL (TOPIC); COMPLICATION; DISORDERS OF LIPID AND LIPOPROTEIN METABOLISM; DRUG EFFECTS; METABOLISM; OXIDATION REDUCTION REACTION; PATHOLOGY; PRESCHOOL CHILD;

ADOLESCENT; CARDIOMYOPATHIES; CHILD; CHILD, PRESCHOOL; CLINICAL TRIALS AS TOPIC; ENERGY METABOLISM; FATTY ACIDS; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; LIPID METABOLISM, INBORN ERRORS; MALE; OXIDATION-REDUCTION; TRIGLYCERIDES;

EID: 84992588827     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2016.08.008     Document Type: Article

References (30)

1. [1] Spiekerkoetter, U., Lindner, M., Santer, R., Grotzke, M., Baumgartner, M.R., Boehles, H., Das, A., Haase, C., Hennermann, J.B., Karall, D., de, K.H., Knerr, I., Koch, H.G., Plecko, B., Roschinger, W., Schwab, K.O., Scheible, D., Wijburg, F.A., Zschocke, J., Mayatepek, E., Wendel, U., Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop. J.Inherit.Metab Dis. 32 (2009), 488–497.
2. [2] M. Lindner, G. Gramer, G. Haege, J. Fang-Hoffmann, K.O. Schwab, U. Tacke, F.K. Trefz, E. Mengel, U. Wendel, M. Leichsenring, P. Burgard, G.F. Hoffmann, Efficacy and outcome of expanded newborn screening for metabolic diseases–report of 10 years from South-West Germany Orphanet J Rare Dis 6 (2011) 44.
3. [3] Baruteau, J., Sachs, P., Broue, P., Brivet, M., Abdoul, H., Vianey-Saban, C., Ogier de, B.H., Clinical and biological features at diagnosis in mitochondrial fatty acid beta-oxidation defects: a French pediatric study of 187 patients. J Inherit.Metab Dis., 2012.
4. [4] Kelly, D.P., Strauss, A.W., Inherited cardiomyopathies. N. Engl. J. Med. 330 (1994), 913–919.
5. [5] Vockley, J., Marsden, D., McCracken, E., DeWard, S., Barone, A., Hsu, K., Kakkis, E., Long-Term Major Clinical Outcomes in Patients with Long Chain Fatty Acid Oxidation Disorders before and after Transition to Triheptanoin Treatment—A Retrospective Chart Review Molecular Genetics and Metabolism. 2015.
6. [6] Strauss, A.W., Powell, C.K., Hale, D.E., Anderson, M.M., Ahuja, A., Brackett, J.C., Sims, H.F., Molecular basis of human mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhood. Proc. Natl. Acad. Sci. U. S. A. 92 (1995), 10496–10500.
7. [7] Hale, D.E., Bennett, M.J., Fatty acid oxidation disorders: a new class of metabolic diseases. J. Pediatr. 121 (1992), 1–11.
8. [8] Mathur, A., Sims, H.F., Gopalakrishnan, D., Gibson, B., Rinaldo, P., Vockley, J., Hug, G., Strauss, A.W., Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death. Circulation 99 (1999), 1337–1343.
9. [9] Guertl, B., Noehammer, C., Hoefler, G., Metabolic cardiomyopathies. Int. J. Exp. Pathol. 81 (2000), 349–372.
10. [10] Tucci, S., Flogel, U., Hermann, S., Sturm, M., Schafers, M., Spiekerkoetter, U., Development and pathomechanisms of cardiomyopathy in very long-chain acyl-CoA dehydrogenase deficient (VLCAD(−/−)) mice. Biochim. Biophys. Acta 1842 (2014), 677–685.
11. [11] Towbin, J.A., Lowe, A.M., Colan, S.D., Sleeper, L.A., Orav, E.J., Clunie, S., Messere, J., Cox, G.F., Lurie, P.R., Hsu, D., Canter, C., Wilkinson, J.D., Lipshultz, S.E., Incidence, Causes, and Outcomes of Dilated Cardiomyopathy in Children JAMA: The Journal of the American Medical Association 296 (2006). 1867–1876.
12. [12] Roe, C.R., Brunengraber, H., Anaplerotic treatment of long-chain fat oxidation disorders with triheptanoin: Review of 15 years experience. Mol. Genet. Metab. 116 (2015), 260–268.
13. [13] Lipshultz, S.E., Orav, E.J., Wilkinson, J.D., Towbin, J.A., Messere, J.E., Lowe, A.M., Sleeper, L.A., Cox, G.F., Hsu, D.T., Canter, C.E., Hunter, J.A., Colan, S.D., Risk stratification at diagnosis for children with hypertrophic cardiomyopathy: an analysis of data from the Pediatric Cardiomyopathy Registry. Lancet 382 (2013), 1889–1897.
14. [14] Lipshultz, S.E., Sleeper, L.A., Towbin, J.A., Lowe, A.M., Orav, E.J., Cox, G.F., Lurie, P.R., McCoy, K.L., McDonald, M.A., Messere, J.E., Colan, S.D., The incidence of pediatric cardiomyopathy in two regions of the United States. N. Engl. J. Med. 348 (2003), 1647–1655.
15. [15] Brunengraber, H., Roe, C.R., Anaplerotic molecules: current and future. J.Inherit.Metab Dis. 29 (2006), 327–331.
16. [16] Kinman, R.P., Kasumov, T., Jobbins, K.A., Thomas, K.R., Adams, J.E., Brunengraber, L.N., Kutz, G., Brewer, W.U., Roe, C.R., Brunengraber, H., Parenteral and enteral metabolism of anaplerotic triheptanoin in normal rats. Am.J. Physiol Endocrinol. Metab 291 (2006), E860–E866.
17. [17] Roe, C.R., Sweetman, L., Roe, D.S., David, F., Brunengraber, H., Treatment of cardiomyopathy and rhabdomyolysis in long-chain fat oxidation disorders using an anaplerotic odd-chain triglyceride. J.Clin.Invest 110 (2002), 259–269.
18. [18] Boutron, A., Acquaviva, C., Vianey-Saban, C., de Lonlay, P., de Baulny, H.O., Guffon, N., Dobbelaere, D., Feillet, F., Labarthe, F., Lamireau, D., Cano, A., de Villemeur, T.B., Munnich, A., Saudubray, J.M., Rabier, D., Rigal, O., Brivet, M., Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency Molecular genetics and metabolism., 103, 2011, 341–348.
19. [19] Vockley, J., Bennett, M., Gillingham, M., Mitochondrial fatty acid oxidation disorders. Valle, D., (eds.) The Metabolic and Molecular Bases of Inherited Diseases, 2016 McGraw-Hill, New York, NY. (In Press).
20. [20] MacLaren, G., Dodge-Khatami, A., Dalton, H.J., MacLaren, G., Dodge-Khatami, A., Dalton, H.J., Adachi, I., Almodovar, M., Annich, G., Bartlett, R., Bronicki, R., Brown, K., Butt, W., Cooper, D., Demuth, M., D'Udekem, Y., Fraser, C., Guerguerian, A.M., Heard, M., Horton, S., Ichord, R., Jaquiss, R., Laussen, P., Lequier, L., Lou, S., Marino, B., McMullan, M., Ogino, M., Peek, G., Pretre, R., Rodefeld, M., Schmidt, A., Schwartz, S., Shekerdemian, L., Shime, N., Sivarajan, B., Stiller, B., Thiagarajan, R., Joint statement on mechanical circulatory support in children: a consensus review from the Pediatric Cardiac Intensive Care Society and Extracorporeal Life Support Organization Pediatric critical care medicine. A journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Car e Societies 14 (2013), S1–S2.
21. [21] Kumar, T.K., Zurakowski, D., Dalton, H., Talwar, S., Allard-Picou, A., Duebener, L.F., Sinha, P., Moulick, A., Extracorporeal membrane oxygenation in postcardiotomy patients: factors influencing outcome. J. Thorac. Cardiovasc. Surg. 140 (2010), 330–336, e332.
22. [22] Rajagopal, S.K., Almond, C.S., Laussen, P.C., Rycus, P.T., Wypij, D., Thiagarajan, R.R., Extracorporeal membrane oxygenation for the support of infants, children, and young adults with acute myocarditis: a review of the Extracorporeal Life Support Organization registry. Crit. Care Med. 38 (2010), 382–387.
23. [23] Merrill, E.D., Schoeneberg, L., Sandesara, P., Molitor-Kirsch, E., O'Brien, J. Jr., Dai, H., Raghuveer, G., Outcomes after prolonged extracorporeal membrane oxygenation support in children with cardiac disease–Extracorporeal Life Support Organization registry study. J. Thorac. Cardiovasc. Surg. 148 (2014), 582–588.
24. [24] Cavarocchi, N.C., Pitcher, H.T., Yang, Q., Karbowski, P., Miessau, J., Hastings, H.M., Hirose, H., Weaning of extracorporeal membrane oxygenation using continuous hemodynamic transesophageal echocardiography. J. Thorac. Cardiovasc. Surg. 146 (2013), 1474–1479.
25. [25] Falkensammer, C.B., Heinle, J.S., Chang, A.C., Serial Plasma BNP Levels n Assessing Inadequate Left Ventricular Decompression on ECMO Pediatric Cardiology. 29, 2008, 808–811.
26. [26] Lindroos, M.M., Parkka, J.P., Taittonen, M.T., Iozzo, P., Karppa, M., Hassinen, I.E., Knuuti, J., Nuutila, P., Majamaa, K., Myocardial glucose uptake in patients with the m.3243 A > G mutation in mitochondrial DNA. J. Inherit. Metab. Dis. 39 (2016), 67–74.
27. [27] Bakermans, A.J., Dodd, M.S., Nicolay, K., Prompers, J.J., Tyler, D.J., Houten, S.M., Myocardial energy shortage and unmet anaplerotic needs in the fasted long-chain acyl-CoA dehydrogenase knockout mouse. Cardiovasc. Res. 100 (2013), 441–449.
28. [28] Des Rosiers, C., Labarthe, F., Lloyd, S.G., Chatham, J.C., Cardiac anaplerosis in health and disease: food for thought. Cardiovasc. Res. 90 (2011), 210–219.
29. [29] Tucci, S., Flogel, U., Sturm, M., Borsch, E., Spiekerkoetter, U., Disrupted fat distribution and composition due to medium-chain triglycerides in mice with a beta-oxidation defect. Am. J. Clin. Nutr. 94 (2011), 439–449.
30. [30] Tucci, S., Behringer, S., Spiekerkoetter, U., De novo fatty acid biosynthesis and elongation in very long-cehain acyl-CoA dehydrogenase-deficient mice supplemented with odd or even medium-chain fatty acids. FEBS J 282 (2015), 4242–4253.