Abstract
A variety of metabolic diseases affect the cardiovascular system. Some of these are classified as storage diseases or disorders of lysosomal function: glycogen storage diseases, mucopolysaccharidoses, mucolipidoses, glycoproteinoses, lipidoses, and peroxisomal diseases (chapter 11). Other metabolic diseases result in connective tissue diseases (chapter 13). Lipoprotein disorders which contribute to cardiac pathology are reviewed in chapter 9.
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References
Engel AG: Possible causes and effects of carnitine deficiency in man. In: Carnitine biosynthesis metabolism and functions, Frankel RA, McGarry JD (eds), New York, Academic Press, 1980, p 271–285.
Rebouche CJ, Engel AG: Carnitine metabolism and deficiency syndromes. Mayo Clin Proc 58:533–540, 1983.
Hart ZH, Chang CH, DiMauro S, Farooki Q, Ayyar R: Muscle carnitine deficiency and fatal cardiomyopathy. Neurology 28:147–151, 1978.
Chapoy PR, Angelini C, Brown WJ, Stiff J, Shug AL, Cederbaum SD: Systemic carnitine deficiency: A treatable inherited lipid storage disease presenting as Reye’s syndrome. N Engl J Med 303:1389–1394, 1980.
Ware AJ, Burton WC, McGarry JD, Marks JF, Weinberg AG: Systemic carnitine deficiency: Report of a fatal case with multisystem manifestations. J Pediatr 93:959–964, 1978.
Tripp ME, Katcher ML, Peters HA, Gilbert EF, Arya S, Hodach RJ, Shug AL: Systemic carnitine deficiency presenting as familial endocardial fibroelastosis. N Engl J Med 305:385–390, 1981.
Waber LJ, Valle D, Neill C, DiMauro S, Shug AL: Carnitine deficiency presenting as familial cardiomyopathy: A treatable defect in carnitine transport. J Pediatr 101:700–705, 1982.
Matsuishi T, Hirata K, Terasawa K, Kato H, Yoshino M, Ohtaki E, Hirose F: Successful carnitine treatment in two siblings having lipid storge myopathy with hypertrophic cardiomyopathy. Neuropediatrics 16:6–12, 1985.
Parker D, Root AW, Schimmel S, Andriola M, DiMauro S: Encephalopathy and fatal myopathy in two siblings: Their association with partial deficiency of muscle carnitine. Am J Dis Child 136:598–601, 1982.
Tripp ME, Shug AL: Long term management problems in carnitine deficient cardiomyopathy. Pediatr Res 19:135A, 1985.
Opie LH: Role of carnitine in fatty acid metabolism of normal and ischemic myocardium. Am Heart J 97:375–388, 1979.
Neely JR, Robishaw JD, Vary TC: Control of myocardial levels of coenzyme A and carnitine. J Mol Cell Cardiol 14 (Suppl 3):37–42, 1982.
Roe CR, Hoppel CL, Stacey TE, Chalmers RA, Tracey BM, Millington DS: Metabolic response to carnitine in methylmalonic aciduria: An effective strategy for elimination of propionyl groups. Arch Dis Child 58:916–920, 1983.
Borum PR: Carnitine. Annu Rev Nutr 3:233–259, 1983.
Kerr D, Sherin S, Tseng KY, Hoppel C: Metabolic effects of treatment of systemic carnitine deficiency. Pediatr Res 15:633A, 1981.
Engel AG, Rebouche CJ, Wilson DM, Glasgow AM, Romshe CA, Cruse RP: Primary systemic carnitine deficiency. II. Renal handling of carnitine. Neurology 31:819–825, 1981.
Bargen-Lockner C, Hahn P, Wittman B: Plasma carnitine in pregnancy. Am J Obstet Gynecol 140:412–414, 1981.
Novak M, Monkus EF, Chung D, Buch M: Carnitine in the perinatal metabolism of lipids: 1. Relationship between maternal and fetal plasma levels of carnitine and acylcarnitines. Pediatrics 67:95–100, 1981.
Shenai JP, Borum PR: Tissue carnitine reserves of newborn infants. Pediatr Res 18:679–681, 1984.
Karpati G, Carpenter S, Engel AG, Watters G, Allen J, Rothman S, Klassen G, Mamer OA: The syndrome of systemic carnitine deficiency. Clinical, morphologic, biochemical and pathophysiologic features. Neurology 25:16–24, 1975.
Slonim AE, Borum PR, Tanaka K, Stanley CA, Kasselberg AG, Greene HL, Burr IM: Dietary dependent carnitine deficiency as a cause of nonketotic hypoglycemia in an infant. J Pediatr 99:551–556, 1981.
Shug AL: Personal communication.
Bazzato G, Coli U, Landini S, Mezzina C, Ciman M: Myasthenia-like syndrome after D, L but not L-carnitine. Lancet 1:1209, 1981.
Paulsen DJ, Shug AL: Tissue specific depletion of L-carnitine in rat heart and skeletal muscle by D-carnitine. Life Sci 28:2931–2938, 1981.
Carazza C: Absorption and plasma levels of carnitine in human subjects. Unpublished data, Sigma-Tau, Rome, Italy.
Cederbaum SD, Auestad N, Bernar J: Four year treatment of systemic carnitine deficiency. N Engl J Med 310:1995–1996, 1984.
Khan L, Bamji MS: Plasma carnitine level in children with protein-calorie malnutrition before and after rehabilitation. Clin Chim Acta 75:163–166, 1977.
Penn D, Schmidt-Sommerfeld E, Wolf H: Carnitine deficiency in premature infants receiving total parenteral nutrition. Early Hum Dev 4:23–24, 1980.
Penn D, Schmidt-Sommerfeld E, Pascu F: Decreased tissue carnitine concentrations in newborn infants receiving total parenteral nutrition. J Pediatr 98:976–978, 1981.
Rudman D, Sewell CW, Ansley JD: Deficiency of carnitine in cachectic cirrhotic patients. J Clin Invest 60:716–723, 1977.
Moorthy AV, Rosenblum M, Rajaram R, Shug AL: A comparison of plasma and muscle carnitine levels in patients on peritoneal or hemodialysis for chronic renal failure. Am J Nephrol 3:205–208, 1983.
Netzloff ML, Kohrman AF, Jones MZ, Emaus RK, Bieber LL, DiMauro S: Carnitine deficiency associated with renal Fanconi syndrome. J Neuropathol Exp Neurol 40:351, 1981.
Scholte HR, Stinis JT, Jennekens FG: Low carnitine levels in serum of pregnant women. N Engl J Med 299:1079–1080, 1978.
Maebashi M, Kawamura N, Sato M, Imamura A, Yoshinaga K, Suzuki M: Urinary excretion of carnitine and serum concentrations of carnitine and lipids in patients with hypofunctional endocrine diseases: Involvement of adrenocorticoid and thyroid hormones in ACTH-induced augmentation of carnitine and lipids metabolism. Metabolism 26:357–361, 1977.
Maebashi M, Kawamura N, Sato M, Imamura A, Yoshinaga K, Suzuki M: Urinary excretion of carnitine in patients with hyperthyroidism and hypothyroidism: Augmentation by thyroid hormone. Metabolism 26:351–356, 1977.
Ohtani Y, Endo F, Matsuda I: Carnitine deficiency and hyperammonemia associated with valproic acid therapy. J Pediatr 101:782–785, 1982.
Coude FX, Ogier H, Carrier H, Berthillier G, Charpentier C, Pham Dinh D, Aicardi J, Saudubray JM: Myopathy in methylmalonic acidemia: A new secondary carnitine deficiency syndrome. Abstracts of Free Communications, Fifth International Congress Neuromuscular Diseases, 1982.
Seccombe DW, Snyder F, Parsons HG: L-carnitine for methylmalonicaciduria. Lancet 2;1401, 1982.
Roe CR, Bohan P: L-carnitine therapy in propionicacidaemia. Lancet 1:1411–1412, 1982.
Stanley CA, Hale DE, Whiteman DEH, Coates PM, Yudkoff M, Berry GT, Segal S: Systemic carnitine (carn) deficiency in isovaleric acidemia (IVA). Pediatr Res 17:296A, 1983.
Dusheiko G, Kew MC, Joffe BI, Lewin JR, Mantagos S, Tanaka K: Recurrent hypoglycemia associated with glutaric aciduria type II in an adult. N Engl J Med 301:1405–1409, 1979.
Turnbull DM, Bartlett K, Stevens DL, Alberti KGMM, Gibson GJ, Johnson MA, McCulloch AJ, Sherratt HSA: Short chain acyl-CoA dehydrogenase deficiency associated with a lipidstorage myopathy and secondary carnitine deficiency. N Engl J Med 311:1232–1236, 1984.
Stanley CA, Hale DE, Coates PM, Hall CL, Corkey BE, Yang W, Kelley 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 17:877–884, 1983.
Coates PM, Hale DE, Stanley CA, Corkey BE, Cortner JA: Genetic deficiency of medium-chain acyl coenzyme A dehydrogenase: Studies in cultured skin fibroblasts and peripheral mononuclear leukocytes. Pediatr Res 19:671–676, 1985.
Hale DE, Batshaw ML, Coates PM, Frerman FE, Goodman SI, Singh I, Stanley CA: Long-chain acyl coenzyme A dehydrogenase deficiency: An inherited cause of non-ketotic hypoglycemia. Pediatr Res 19:666–671, 1985.
Krieger I, Taqi Q, Sweeley CC, Snodgrass PJ: Ornithine transcarbamylase (OTC) deficiency in intermittent Reye’s syndrome due to multiple acyl-CoA dehydrogenase defect. Pediatr Res 17:292A, 1983.
Sansaricq C, Kaufmann R, DiMauro S, Schacht RG, Greco A, Goldstein F, Naylor EW, Bazaz G, Synderman SE: Mixed form of carnitine deficiency with dicarboxylic aciduria unresponsive to carnitine. Pediatr Res 17:295A, 1983.
Müller-Höcker J, Pongratz D, Deufel T, Trijbels JMF, Endres W, Hubner G: Fatal lipid storage myopathy with deficiency of cytochrome-c-oxidase and carnitine. Virchows Arch Pathol Anat 399:11–23, 1983.
Busch HFM, Scholte HR, Arts WF, Luyt-Houwen IEM: A mitochondrial myopathy with a respiratory chain defect and carnitine deficiency. In: Mitochondria and muscular diseases, Busch HFM, Jennekens FGI, Scholte HR (eds), Beetsterzwaag, The Netherlands, Mefar, 1981, p 207–211.
Behbehani AW, Goebel H, Osse G, Gabriel M, Langenbeck U, Berden J, Berger R, Schutgens RBH: Mitochondrial myopathy with lactic acidosis and deficient activity of muscle succinate cytochrome-c-oxidoreductase. Eur J Pediatr 143:67–71, 1984.
Sengers RCA, Fischer JC, Trijbels JMF, Ruitenbeek W, Stadhouders AM, terLaak HJ, Jaspar HHJ: A mitochondrial myopathy with a defective respiratory chain and carnitine deficiency. Eur J Pediatr 140:332–337, 1983.
Allen RJ, DiMauro S, Coulter DL: Kearns-Sayre syndrome (KSS). A possible disorder of folate and carnitine metabolism. Pediatr Res 17:286A, 1983.
Hayes DJ, Summers BA, Morgan-Hughes JA, Clark JB: A combined deiciency of muscle carnitine and mitochondrial ATPase activity in a patient with multisystem disease partially responsive to oral carnitine (abstract). In: Abstracts of Free Communications, Fifth International Congress on Neuromuscular Diseases, 1982.
Bohles H, Lehnert W: The effect of intravenous L-carnitine on propionic acid excretion in acute propionic acidaemia. Eur J Pediatr 143:61–63, 1984.
Gregerson N: Fatty acyl-CoA dehydrogenase deficiency: Enzyme measurement and studies on alternative metabolism. J Inherit Dis 7(Suppl 1):28–32, 1984.
Gregerson N, Rosleff F, Kolvraa S, Hobolth N, Rasmussen K, Lauritzen R: Non-ketotic C6-C10-dicarboxylic aciduria: Biochemical investigations of two cases. Clin Chim Acta 102:179–189, 1980.
DelValle JA, Garcia MJ, Merinero B, Perez-Cerda C, Roman F, Jimenez A, Ugarte M, Martinez-Pardo M, Ludena C, Camarero C, DelOlmo R, Duran M, Wadman SK: A new patient with dicarboxylic aciduria suggestive of medium-chain acyl-CoA dehydrogenase deficiency presenting as Reye’s syndrome. J Inherit Dis 7:62–64, 1984.
Roe CR, Millington DS, Maltby DA, Bohan TP, Kahler SG, Chalmers RA: Diagnostic and therapeutic implications of medium-chain acyl-carnitines in the medium-chain acyl-CoA dehydrogenase deficiency. Pediatr Res 19:459–466, 1985.
Rhead WJ, Amendt BA, Fritchman KS, Felts SJ: Dicarboxylic aciduria: Deficient (1–14C) octanoate oxidation and medium chain acyl-CoA dehydrogenase in fibroblasts. Science 221:73–75, 1983.
Naylor EW, Mosovich LL, Guthrie R, Evans JE, Tieckelmann H: Intermittent non-ketotic dicarboxylic aciduria in two siblings with hypoglycemia: An apparent defect in ß-oxidation of fatty acids. J Inherit Dis, 3:19–24, 1980.
Rhead WJ, Amendt BA: Electron-transferring flavoprotein deficiency in the multiple acyl-CoA dehydrogenation disorders, glutaric aciduria type II and ethylmalonic-adipic aciduria. J Inherit Dis 7:99–100, 1984.
Goodman SI, McCabe ER, Fennessey PV, Mace JW: Multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II) with transient hypersarcosinemia and sarcosinuria; Possible inherited deficiency of an electron transfer flavoprotein. Pediatr Res 14:12–17, 1980.
Jakobs C, Sweetman L, Wadman SK, Duran M, Saudubray JM, Nyhan WH: Prenatal diagnosis of glutaric aciduria type II by direct chemical analysis of dicarboxylic acids in amniotic fluid. Eur J Pediatr 141:153–157, 1984.
Coude FX, Ogier H, Charpentier C, Thomassin G, Checoury A, Amedeemanesme O, Saudubray JM, Frezal J: Neonatal glutaric aciduria type II: An X-linked recessive inherited disorder. Hum Genet 59:263–265, 1981.
Harpey JP, Charpentier C, Goodman SI, Darbois Y, Lefebvre G, Sebbah J: Multiple acyl-CoA dehydrogenase deficiency occurring in pregnancy and caused by a defect in riboflavin metabolism in the mother. J Pediatr 103:394–398, 1983.
Mooy PD, Przyrembel H, Giesberts MAH, Scholte HR, Blom W, vanGelderen HH: Glutaric aciduria type II: Treatment with riboflavine, carnitine and insulin. Eur J Pediatr 143:92–95, 1984.
Mantagos S, Genel M, Tanaka K: Ethylmalonic-adipic aciduria: In vivo and in vitro studies indicating deficiency of activities of multiple acyl-CoA dehydrogenases. J Clin Invest 64:1580–1589, 1979.
Hoppel CL: Carnitine and carnitine palmitoyl transferase in fatty acid oxidation and ketosis. Fed Proc 41:2853–2857, 1982.
Angelini C, Freddo L, Battistella P, Bresolini N, Pieroban-Bormoili S, Armcei M, Vergani L: Carnitine palmityl transferase deficiency: Clinical variability, carrier detection and autosomal recessive inheritance. Neurology 31:883–886, 1981.
Jennekins FGI, Scholte HR, Stims JT, Luyt-Houwen IEM: Carnitine palmitoyl transferase deficiency. Variations in clinical expression, differences between CPT I and II and mode of inheritance. In: Mitochondria and muscular diseases, Busch HFM, Jennekins FGI, and Scholte HR (eds), Beetsterzwaag, The Netherlands, Mefar, 1981, p 213–218.
Bougneres PF, Saudubray JM, Maisac C, Bernaudi O, Odierre M, Girard J: Fasting hypoglycemia resulting from hepatic carnitine palmitoyl transferase deficiency. J Pediatr 98:742–746, 1981.
Wenger JA, Grotyhaun LW, Neely JR: Regulation of fatty acid utilization in heart. Role of carnitine-acetyl CoA transferase and carnitine acetyl carnitine translocase system. J Mol Cell Cardiol 14:413–418, 1982.
Bieber LL, Emaus R, Valkner K, Farrell S: Possible functions of short chain carnitine acyl-transferases. Fed Proc 41:2858–2862, 1982.
DiDonato S, Rimoldi M, Moise A, Bertagnoglio B, Uziel G: Fatal ataxic encephalopathy and carnitine acetyltransferase deficiency: A functional defect of pyruvate oxidation? Neurology 29:1578–1583, 1979.
Tripp ME, Lennon DL, Stratman FW, Hodach RJ, Shug AL: Restrictive cardiomyopathy with preclinical myopathy: Metabolic and morphologic findings. Clin Res 30:227A, 1982.
DiMauro S, Trevisan C, Hays A: Disorders of lipid metabolism in muscle. Muscle Nerve 3:369–388, 1980.
Cox RP, Hutzler J, Dancis J: Antenatal diagnosis of maple-syrup-urine-disease. Lancet 2:212, 1978.
Rosenberg LE: Disorders of propionate and methylmalonate metabolism. In: Metabolic basis of inherited disease, Fifth Edition, Stanbury JB, Wyngaarden JB, Fredrickson DS, Goldstein JL, Brown MS (eds), New York, McGraw-Hill, 1982, p 474.
Zinn AB, Hine DG, Mahoney MJ, Tanaka K: The stable isotope dilution method for measurement of methylmalonic acid: A highly accurate approach to the prenatal diagnosis of methylmalonic acidemia. Pediatr Res 16:740–745, 1982.
Ampola MG, Mahoney MJ, Nakamura E, Tanaka K: Prenatal therapy of a patient with vitamin B12 responsive methylmalonic acidemia. N Engl J Med 293:313–317, 1975.
Fenton WA, Rosenberg LE: The defect in the cbl B class of human methylmalonic acidemia: Deficiency of cob(1) alamin adenosyltransferase activity in extracts of cultured fibroblasts. Biochem Biophys Res Commun 98:283–289, 1981.
Sweetman L: Two forms of biotin-responsive multiple carboxylase deficiency. J Inherit Dis 4:53–54, 1981.
Daum RS, Scriver CR, Mamer OA, Delvin E, Lamm P, Goldman H: An inherited disorder of isoleucine catabolism causing accumulation of α-methylacetoacetate and α-methyl-ß-hydroxybutyrate, and intermittent metabolic acidosis. Pediatr Res 7:149–160, 1973.
Schutgens RBH, Middleton B, Blij JF, Oorthuys JWE, Veder HA, Vulsma T, Tegelaers WHH: Beta-ketothiolase deficiency in a family confirmed by in vitro enzymatic assays in fibroblasts. Eur J Pediatr 139:39–42, 1982.
Budd MA, Tanaka K, Holmes LB, Efron ML, Crawford JD, Isselbacher KJ: Isovaleric acidemia. Clinical features of a new genetic defect of leucine metabolism. N Engl J Med 277:321–327, 1967.
Rhead WR, Tanaka K: Demonstration of a specific mitochondrial isovaleryl CoA dehydrogenase deficiency in fibroblasts from patients with isovaleric acidemia. Proc Natl Acad Sci USA 77:580–583, 1980.
Rhead WR, Hall CL, Tanaka K: Novel tritium release assays for isovaleryl CoA dehydrogenase. J Biol Chem 256:1616–1624, 1981.
Gibson KM, Sweetman L, Nyhan WL, Page TM, Greene C, Cann HM: 3-hydroxy-3-methylglutaric aciduria: A new assay of 3-hydroxy-3-methylglutaryl-CoA lyase using high performance liquid chromatography. Clin Chim Acta 126:171–161, 1982.
Duran M, Schutgens RBH, Ketel A, Heymans H, Berntssen MWJ, Ketting D, Wadman SK: 3-hydroxy-3-methylglutaryl CoA lyase deficiency: Postnatal management following prenatal diagnosis by analysis of maternal urine. J Pediatr 95:1004–1007, 1979.
Duran M, Beemer FA, Tibosch AS, Bruinvis L, Ketting D, Wadman SK: Inherited 3-methylglutaconic aciduria in two brothers-another defect of leucine metabolism. J Pediatr 101:551–554, 1982.
Brown GK, Hunt SM, Scholem R, Fowler K, Grimes A, Mercer JFB, Truscott RM, Cotton RG, Rogers JG, Danks DM: ß-Hydroxyisobutyryl coenzyme A deacylase deficiency: A defect in valine metabolism associated with physical malformations. Pediatrics 70:532–538, 1982.
Goodman SI, Markey SP, Moe PG, Miles BS, Teng CC: Glutaric aciduria: A “new” disorder of amino acid metabolism. Biochem Med 12:12–21, 1975.
Goodman SI, Stene DO, McCabe ERB, Norenberg MD, Shikes RH, Stumpf DA, Blackburn GK: Glutaric acidemia type II: Clinical, biochemical and morphologic considerations. J Pediatr 100:946–950, 1982.
Henry CG, Strauss AW, Keating JP, Hillman RE: Congetive cardiomyopathy associated with ß-ketothiolase deficiency. J Pediatr 99:754–757, 1981.
Robinson BH: Inborn errors of pyruvate metabolism. Biochem Soc Trans 11:623–626, 1984.
DeVivo DC, Haymond MW, Leckie MP, Bussmann YL, McDougal DB Jr, Pagliaro AS: The clinical and biochemical implications of pyruvate carboxylase deficiency. J Clin Endocrinol Metab 45:1281–1296, 1977.
Blass JP: Disorders of pyruvate metabolism. Neurology 29:479–488, 1979.
Blass JP: Pyruvate dehydrogenase deficiencies. In: Inherited disorders of carbohydrate metabolism, Burman JB, Holton JB, Pennock CA (eds), Baltimore, University Park Press, 1980, p 239–268.
Hommes FA, Schrijver J, Dias J: Pyruvate carboxylase deficiency: Studies on patients and on an animal model. In: Inherited disorders of carbohydrate metabolism, Burman JB, Holton JB, Pennock CA (eds), Baltimore, University Park Press, 1980, p 269–286.
Rutledge JT, Haas JE, Monnat R, Milstein JM: Hypertrophic cardiomyopathy is a component of subacute necrotizing encephalomyelopathy. J Pediatr 101:706–710, 1982.
Boyer SH, Chisholm AW, McKusick VA: Cardiac aspects of Friedreich’s ataxia. Circulation 25:493–499, 1962.
Brunette MG, Delvin E, Hazel B, Scriver CR: Thiamine-responsive lactic acidosis in a patient with deficient low KM pyruvate carboxylase activity in liver. Pediatrics 50:702–711, 1972.
Matalon R, Stumpf DA, Michals K, Hart RD, Parks JK, Goodman SI: Lipoamide dehydrogenase deficiency with primary lactic acidosis: Favorable response to treatment with oral lipoic acid. J Pediatr 104:65–69, 1984.
Wolf B, Feldman GL: The biotin dependent carboxylase deficiencies. Am J Hum Genet 34:669–716, 1982.
Atkin B: Carrier detection of pyruvate carboxylase deficiency in fibroblasts and lymphocytes. Pediatr Res 13:1101–1104, 1979.
Sengers RCA, Stadhouders AM, Trijbels JMF: Mitochondrial myopathies: Clinical, morphological and biochemical aspects. Eur J Pediatr 141:192–207, 1984.
Morgan-Hughes JA, Hayes DJ, Clark JB, Landon DN, Swash M, Stark RJ, Rudge P: Mitochondrial encephalomyopathies. Biochemical studies in two cases revealing defects in the respiratory chain. Brain 105:553–582, 1982.
Morgan-Hughes JA, Hayes DJ, Clark JB: Mitochondrial myopathies. In: Neuromuscular diseases, Serratrice G, Cros D, Desnuelle C, Gastaut JL, Pellissier JF, Pouget J, Schiano A (eds), New York, Raven Press, 1984, p 79–85.
Papadimitriou A, Neustein HB, DiMauro S, Stanton R, Bresolin N: Histiocytoid cardiomyopathy of infancy: Deficiency of reducible cytochrome b in heart mitochondria. Pediatr Res 18:1023–1028, 1984.
Garson A, Gillette PC, Titus JL, Hawkins E, Kearney D, Ott D, Cooley DA, McNamara DG: Surgical treatment of ventricular tachycardia in infants. N Engl J Med 310:1443–1445, 1984.
Darley-Usmar M, Kennaway NG, Buist NRM, Capaldi RA: A deficiency in ubiquinone cytochrome c reductase in a patient with mitochondrial myopathy and lactic acidosis. Proc Natl Acad Sci USA 50:5103–5106, 1983.
Tzagoloff A: Mitochondria, New York, Plenum Press, 1982.
Kennaway NG, Buist NRM, Darley-Usmar VM, Papadimitriou A, DiMauro S, Kelley RI, Capaldi RA, Blank NK, D’Agostino A: Lactic acidosis and mitochondrial myopathy associated with deficiency of several components of complex III of the respiratory chain. Pediatr Res 18:991–999, 1984.
DiMauro S, Mendell JR, Sahenk Z, Bachman D, Scarpa A, Scofield RM, Reiner C: Fatal infantile mitochondrial myopathy and renal dysfunction due to cytochrome-c-oxidase deficiency. Neurology 30:795–804, 1980.
Sengers RCA, Trijbels JMF, Bakkeren JAJM, Ruitenbeek W, Fischer JC, Janssen AJM, Stadhouders AM, terLaak HJ: Deficiency of cytochromes b and aa3 in muscle from a floppy infant with cytochrome oxidase deficiency. Eur J Pediatr 141:178–180, 1984.
Rimoldi M, Bottacchi E, Rossi L, Cornelio F, Uziel G, DiDonato S: Cytochrome-c-oxidase deficiency in muscles of a floppy infant without mitochondrial myopathy. J Neurol 227:201–207, 1982.
Neustein HB, Lurie PR, Dahms B, Takahashi M: An X-linked recessive cardiomyopathy with abnormal mitochondria. Pediatrics 64:24–29, 1979.
Sengers RCA, terHaar BGA, Trijbels JMF, Willems JL, Daniels O, Stadhouders AM: Congenital cataract and mitochondrial myopathy of skeletal and heart muscle associated with lactic acidosis after exercise. J Pediatr 86:873–880, 1975.
Hübner G, Grantzow R: Mitochondrial cardiomyopathy with involvement of skeletal muscles. Virchows Arch Pathol Anat 399:115–125, 1983.
Butler IJ, Gadoth N: Kearn-Sayres Syndrome: A review of a multisystem disorder of children and young adults. Arch Intern Med 136:1290–1293, 1976.
Berenberg RA, Pellock JM, DiMauro S, Schotland DL, Bonilla E, Eastwood A, Hays A, Vicale CT, Behrens M, Chutorian A, Rowland LP: Lumping or splitting? Ophthalmoplegiaplus or Kearns-Sayre syndrome? Ann Neurol 1:37–54, 1977.
Egger J, Wilson J: Mitochondrial inheritance in a mitochondrally mediated disease. N Engl J Med 309:142–146, 1982.
Anderson S, Bankier AT, Barrell BG, deBruijn MHL, Coulson AR, Drouin J, Eperon IC, Nierlich DP, Roe BA, Sanger F, Schreier PH, Smith AJH, Staden R, Young IG: Sequence and organization of the human mitochondrial genome. Nature 290:457–465, 1981.
Giles RE, Blanc H, Cann HM, Wallace DC: Maternal inheritance of human mitochondrial DNA. Proc Natl Acad Sci USA 77:6715–6719, 1980.
Bogousslavsky J, Perentes E, Deruaz JP, Regli F: Mitochondrial myopathy and cardiomyopathy with neurodegenerative features and multiple brain infarcts. J Neurol Sci 55:351–357, 1982.
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Pierpont, M.E.M., Tripp, M.E. (1987). Abnormalities of Intermediary Metabolism. In: Pierpont, M.E.M., Moller, J.H. (eds) The Genetics of Cardiovascular Disease. Springer, Boston, MA. https://doi.org/10.1007/978-1-4613-2305-1_10
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