Skip to main content Accessibility help
Hostname: page-component-99c86f546-t82dr Total loading time: 1.528 Render date: 2021-12-07T13:37:56.215Z Has data issue: true Feature Flags: { "shouldUseShareProductTool": true, "shouldUseHypothesis": true, "isUnsiloEnabled": true, "metricsAbstractViews": false, "figures": true, "newCiteModal": false, "newCitedByModal": true, "newEcommerce": true, "newUsageEvents": true }

Chapter 10 - Metabolic and Storage Disease

Published online by Cambridge University Press:  19 August 2019

Michael T. Ashworth
Great Ormond Street Hospital for Children, London
Get access


This chapter deals with the inherited metabolic diseases affecting the heart in which there are morphological changes sufficient to permit a tentative diagnosis to be offered by a pathologist. A large first section deals with glycogen storage disorders and is well illustrated. This is followed by discussion of lysosomal storage disorders, including Niemann–Pick disease, sections on mucopolysaccharidosis and of the commoner disorders of lipid oxidation. Disorders of iron metabolism and amino acidurias close the chapter.

Pathology of Heart Disease in the Fetus, Infant and Child
Autopsy, Surgical and Molecular Pathology
, pp. 221 - 242
Publisher: Cambridge University Press
Print publication year: 2019

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)


Cox, GF. Diagnostic approaches to pediatric cardiomyopathy of metabolic genetic etiologies and their relation to therapy. Prog Pediatr Cardiol 2007; 24: 1525.CrossRefGoogle Scholar
Wicks, EC, Elliott, PM. Genetics and metabolic cardiomyopathies. Herz 2012; 37: 598611.CrossRefGoogle ScholarPubMed
Roach, PJ, Depaoli-Roach, AA, Hurley, TD, Tagliabracci, VS. Glycogen and its metabolism: some new developments and old themes. Biochem J 2012; 441: 763787.CrossRefGoogle ScholarPubMed
Servidei, S, Bertini, E, DiMauro, S. Hereditary metabolic cardiomyopathies. Adv Pediatr 1994; 41: 132.Google ScholarPubMed
Ausems, MG, Verbiest, J, Hermans, MP et al. Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling. Eur J Hum Genet 1999; 7: 713716.CrossRefGoogle ScholarPubMed
Güngör, D, Reuser, AJ. How to describe the clinical spectrum in Pompe disease? Am J Med Genet A 2013; 161A: 399400.CrossRefGoogle ScholarPubMed
Hobson-Webb, LD, Proia, AD, Thurberg, BL et al. Autopsy findings in late-onset Pompe disease: a case report and systematic review of the literature. Mol Genet Metab 2012; 106: 462469.CrossRefGoogle ScholarPubMed
Morris, DA, Blaschke, D, Krebs, A et al. Structural and functional cardiac analyses using modern and sensitive myocardial techniques in adult Pompe disease. Int J Cardiovasc Imaging 2015; 31: 947956.CrossRefGoogle ScholarPubMed
Nicolino, M, Byrne, B, Wraith, JE et al. Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease. Genet Med 2009; 11: 210219.CrossRefGoogle ScholarPubMed
Chakrapani, A, Vellodi, A, Robinson, P, Jones, S, Wraith, JE. Treatment of infantile Pompe disease with alglucosidase alpha: the UK experience. J Inherit Metab Dis 2010; 33: 747750.CrossRefGoogle ScholarPubMed
Lim, JA, Li, L, Raben, N. Pompe disease: from pathophysiology to therapy and back again. Front Aging Neurosci 2014; 6: 177.CrossRefGoogle Scholar
Hagemans, ML, Stigter, RL, van Capelle, CI, et al. PAS-positive lymphocyte vacuoles can be used as diagnostic screening test for Pompe disease. J Inherit Metab Dis 2010; 33: 133139.CrossRefGoogle ScholarPubMed
Maron, BJ, Roberts, WC, Arad, M et al. Clinical outcome and phenotypic expression in LAMP2 cardiomyopathy. JAMA 2009; 301: 12531259.CrossRefGoogle ScholarPubMed
Yang, Z, McMahon, CJ, Smith, LR et al. Danon disease as a frequent cause of hypertrophic cardiomyopathy in children. Circulation 2005; 12: 16121617.CrossRefGoogle Scholar
Arad, M, Maron, BJ, Gorham, JM et al. Glycogen storage diseases presenting as hypertrophic cardiomyopathy. N Eng J Med 2005; 352: 362372.CrossRefGoogle ScholarPubMed
Sugie, K, Yamamoto, A, Murayama, K et al. Clinicopathological features of genetically confirmed Danon disease. Neurology 2002; 58: 17731778.CrossRefGoogle ScholarPubMed
Yamamoto, A, Morisawa, Y, Verloes, A et al. Infantile autophagic vacuolar myopathy is distinct from Danon disease. Neurology 2001; 57: 903905.CrossRefGoogle ScholarPubMed
Mogahed, EA, Girgis, MY, Sobhy, R et al. Skeletal and cardiac muscle involvement in children with glycogen storage disease type III. Eur J Pediatr 2015; 174: 15451548.CrossRefGoogle ScholarPubMed
Labrune, P, Huguet, P, Odievre, M. Cardiomyopathy in glycogen-storage disease type III: clinical and echographic study of 18 patients. Pediatr Cardiol 1991; 12: 161163.CrossRefGoogle ScholarPubMed
Austin, SL, Proia, AD, Spencer-Manzon, MJ et al. Cardiac pathology in glycogen storage disease type III. JIMD Rep 2012; 6: 6572.CrossRefGoogle ScholarPubMed
Moses, SW, Parvari, R. The variable presentations of glycogen storage disease type IV: a review of clinical, enzymatic and molecular studies. Curr Mol Med 2002; 2: 177188.CrossRefGoogle ScholarPubMed
Cox, PM, Brueton, LA, Murphy, KW et al. Early-onset fetal hydrops and muscle degeneration in siblings due to a novel variant of type IV glycogenosis. Am J Med Genet 1999; 86: 187193.3.0.CO;2-7>CrossRefGoogle ScholarPubMed
Tang, TT, Segura, AD, Chen, Y-T et al. Neonatal hypotonia and cardiomyopathy secondary to type IV glycogenosis. Acta Neuropathol 1994; 87: 531536.CrossRefGoogle ScholarPubMed
Schroder, JM, May, R, Shin, YS, Sigmund, M, Nase-Huppmeier, S. Juvenile hereditary polyglucosan body disease with complete branching enzyme deficiency (type IV glycogenosis). Acta Neuropathol 1993; 85: 419430.CrossRefGoogle Scholar
Aksu, T, Colak, A, Tufekcioglu, O. Cardiac involvement in glycogen storage disease type IV: two cases and the two ends of a spectrum. Case Rep Med 2012; 2012: 764286.CrossRefGoogle ScholarPubMed
Maichele, AJ, Burwinkel, B, Maire, I, Søvik, O, Kilimann, MW. Mutations in the testis/liver isoform of the phosphorylase kinase gamma subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans. Nat Genet 1996; 14: 337340.CrossRefGoogle ScholarPubMed
Roscher, A, Patel, J, Hewson, S et al. The natural history of glycogen storage disease types VI and IX: long-term outcome from the largest metabolic center in Canada. Mol Genet Metab 2014; 113: 171176.CrossRefGoogle Scholar
Elleder, M, Shin, YS, Zuntová, A, Vojtovic, P, Chalupecký, V. Fatal infantile hypertrophic cardiomyopathy secondary to deficiency of heart specific phosphorylase b kinase. Virchows Arch A Pathol Anat Histopathol 1993; 423: 303307.CrossRefGoogle ScholarPubMed
Servidei, S, Metlay, LA, Chodosh, J, DiMauro, S. Fatal infantile cardiopathy caused by phosphorylase b kinase deficiency. J Pediatr 1988; 113: 8285.CrossRefGoogle ScholarPubMed
Regalado, JJ, Rodriguez, MM, Ferrer, PL. Infantile hypertrophic cardiomyopathy of glycogenosis type IX: isolated cardiac phosphorylase kinase deficiency. Pediatr Cardiol 1999; 20: 304307.CrossRefGoogle ScholarPubMed
Burwinkel, B, Scott, JW, Bührer, C et al. Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency. Am J Hum Genet 2005; 76: 10341049.CrossRefGoogle Scholar
Moslemi, A-R, Lindberg, C, Nilsson, J et al. Glycogenin-1 deficiency and inactivated priming of glycogen synthesis. New Engl J Med 2010; 362: 12031210.CrossRefGoogle ScholarPubMed
Malfatti, E, Nilsson, J, Hedberg-Oldfors, C et al. A new muscle glycogen storage disease associated with glycogenin-1 deficiency. Ann Neurol 2014; 76: 891898.CrossRefGoogle ScholarPubMed
Akman, HO, Aykit, Y, Amuk, OC et al. Late-onset polyglucosan body myopathy in five patients with a homozygous mutation in GYG1. Neuromuscul Disord 2016; 26: 1620.CrossRefGoogle ScholarPubMed
Gardiner, A, Scalco, R, Pitceathly, R et al. Glycogen storage disease type XV: A case report. Neuromuscul Disord 2015; 25: S221.CrossRefGoogle Scholar
Sukigara, S, Liang, W-C, Komaki, H et al. Exercise intolerance, myalgia and sudden cardiac death. Muscle glycogen storage disease 0 presenting recurrent syncope with weakness and myalgia. Neuromuscul Disord 2012; 22: 162165.CrossRefGoogle Scholar
Cameron, JM, Levandovskiy, V, MacKay, N et al. Identification of a novel mutation in GSY1 (muscle-specific glycogen synthase) resulting in sudden cardiac death, that is diagnosable from skin fibroblasts. Mol Genet Metab 2009; 98: 378382.CrossRefGoogle Scholar
Akman, HO, Sampayo, JN, Ross, FA et al. Fatal infantile cardiac glycogenosis with phosphorylase kinase deficiency and a mutation in the gamma2-subunit of AMP-activated protein kinase. Pediatr Res 2007; 62: 499504.CrossRefGoogle Scholar
Shah, JS, Elliott, PM. Fabry disease and the heart: an overview of the natural history and the effect of enzyme replacement therapy. Acta Pediatr Suppl 2005; 94: 1114.CrossRefGoogle ScholarPubMed
Ramaswami, U, Whybra, C, Parini, R et al.; FOS European Investigators. Clinical manifestations of Fabry disease in children: data from the Fabry Outcome Survey. Acta Paediatr 2006; 95: 8692.CrossRefGoogle ScholarPubMed
Laney, DA, Peck, DS, Atherton, AM et al. Fabry disease in infancy and early childhood: a systematic literature review. Genet Med 2015; 17: 323330.CrossRefGoogle ScholarPubMed
Hopkin, RJ, Bissler, J, Banikazemi, M et al. Characterization of Fabry disease in 352 pediatric patients in the Fabry Registry. Pediatr Res 2008; 64: 550555.CrossRefGoogle ScholarPubMed
Linhart, A, Elliott, PM. The heart in Anderson–Fabry disease and other lysosomal storage disorders. Heart 2007; 93: 528535.CrossRefGoogle ScholarPubMed
Weinreb, NJ, Barbouth, DS, Lee, RE. Causes of death in 184 patients with type 1 Gaucher disease from the United States who were never treated with enzyme replacement therapy. Blood Cells Mol Dis 2018; 68: 211217.CrossRefGoogle ScholarPubMed
Abrahamov, A, Elstein, D, Gross-Tsur, V et al. Gaucher’s disease variant characterised by progressive calcification of heart valves and unique genotype. Lancet 1995; 346: 10001003.CrossRefGoogle ScholarPubMed
Westwood, M. Endocardial fibroelastosis and Niemann–Pick disease. Br Heart J 1977; 39: 13941396.CrossRefGoogle ScholarPubMed
Wraith, JE. The mucopolysaccharidoses: a clinical review and guide to management. Arch Dis Child 1995; 72: 263267.CrossRefGoogle Scholar
Mohan, UR, Hay, AA, Cleary, MA, Wraith, JE, Patel, RG. Cardiovascular changes in children with mucopolysaccharide disorders. Acta Paediatr 2002; 91: 799804.CrossRefGoogle ScholarPubMed
Braunlin, EA, Harmatz, PR, Scarpa, M et al. Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management. J Inherit Metab Dis 2011; 34: 11831197.CrossRefGoogle ScholarPubMed
Wippermann, CF, Beck, M, Schranz, D et al. Mitral and aortic regurgitation in 84 patients with mucopolysaccharidoses. Eur J Pediatr 1995; 154: 98101.CrossRefGoogle ScholarPubMed
Dangel, JH. Cardiovascular changes in children with mucopolysaccharide storage diseases and related disorders: clinical and echocardiographic findings in 64 patients. Eur J Pediatr 1998; 157: 534538.CrossRefGoogle ScholarPubMed
Leal, GN, de Paula, AC, Leone, C, Kim, CA. Echocardiographic study of paediatric patients with mucopolysaccharidosis. Cardiol Young 2010; 20: 254261.CrossRefGoogle ScholarPubMed
Brosius, FC, Roberts, WC. Coronary artery disease in the Hurler syndrome. Qualitative and quantitative analysis of the extent of coronary narrowing at necropsy in six children. Am J Cardiol 1981; 47: 649653.CrossRefGoogle ScholarPubMed
Van Veldhoven, PP. Biochemistry and genetics of inherited disorders of peroxisomal fatty acid metabolism. J Lipid Res 2010; 51: 28632895.CrossRefGoogle ScholarPubMed
Van Der Vusse, GJ, Van Bilsen, M, Glatz, JFC. Cardiac fatty acid uptake and transport in health and disease. Cardiovasc Res 2000; 45: 279293.CrossRefGoogle ScholarPubMed
Lopaschuk, GD, Belke, DD, Gamble, J, Itoi, T, Schönekess, BO. Regulation of fatty acid oxidation in the mammalian heart in health and disease. Biochim Biophys Acta 1994; 1213: 263276.CrossRefGoogle ScholarPubMed
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: 521526.CrossRefGoogle ScholarPubMed
Vishwanath, VA. Fatty acid beta-oxidation disorders: a brief review. Ann Neurosci 2016; 23: 5155.CrossRefGoogle ScholarPubMed
Bonnet, D, Martin, D, De Lonlay, P et al. Arrhythmias and conduction defects as presenting symptoms of fatty acid oxidation disorders in children. Circulation 1999; 100: 22482253.CrossRefGoogle ScholarPubMed
Preece, MA, Green, A. Pregnancy and inherited metabolic disorders: maternal and fetal complications. Ann Clin Biochem 2002; 39: 444455.CrossRefGoogle ScholarPubMed
Cox, GF, Souri, M, Aoyama, T et al. Reversal of severe hypertrophic cardiomyopathy and an excellent neurophysiologic outcome in very-long-chain acyl-coenzyme A dehydrogenase deficiency. J Pediatr 1998; 133: 247253.CrossRefGoogle Scholar
Den Boer, ME, Wanders, RJ, Den Boer, ME et al. Long-chain 3-hydoxyacyl-CoA dehydrogenase deficiency: clinical presentation and follow-up of 50 patientsPediatrics 2002; 109: 99104.CrossRefGoogle Scholar
Spiekerkoetter, U, Sun, B, Khuchua, Z, Bennett, M, Strauss, AW. Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to β-subunit mutations. Hum Mutat 2003; 21: 598607.CrossRefGoogle ScholarPubMed
Fletcher, AL, Pennesi, ME, Harding, CO, Weleber, RG, Gillingham, MB. Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies. Mol Genet Metab 2012; 106: 1824.CrossRefGoogle ScholarPubMed
Spiekerkoetter, U, Khuchua, Z, Yue, Z, Bennett, MJ, Strauss, AW. General mitochondrial trifunctional protein (TFP) deficiency as a result of either α- or β-subunit mutations exhibits similar phenotypes because mutations in either subunit alter TFP complex expression and subunit turnover. Pediatr Res 2004; 55: 190196.CrossRefGoogle ScholarPubMed
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: 7785.CrossRefGoogle ScholarPubMed
Wang, Y, Kelly, MA, Cowan, TM, Longo, N. A missense mutation in the OCTN2 gene associated with residual carnitine transport activity. Hum Mutat 2000; 15: 238245.3.0.CO;2-3>CrossRefGoogle ScholarPubMed
Huizing, M, Iacobazzi, V, Ijlst, L et al. Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient. Am J Hum Genet 1997; 61: 12391245.CrossRefGoogle ScholarPubMed
Chalmers, RA, Stanley, CA, English, N, Wigglesworth, JS. Mitochondrial carnitine-acylcarnitine translocase deficiency presenting as sudden neonatal death. J Pediatr 1997; 131: 220225.CrossRefGoogle ScholarPubMed
Choong, K, Clarke, JT, Cutz, E, Pollit, RJ, Olpin, SE. Lethal cardiac tachyarrhythmia in a patient with neonatal carnitine-acylcarnitine translocase deficiency. Pediatr Dev Pathol 2001; 4: 573579.CrossRefGoogle Scholar
Vitoria, I, Martín-Hernández, E, Peña-Quintana, L et al. Carnitine-acylcarnitine translocase deficiency: experience with four cases in Spain and review of the literature. JIMD Rep 2015; 20: 1120.CrossRefGoogle ScholarPubMed
Hug, G, Bove, KE, Soukup, S. Lethal neonatal multiorgan deficiency of carnitine palmitoyltransferase II. N Engl J Med 1991; 325: 18621864.CrossRefGoogle ScholarPubMed
Scott, K, Gadomski, T, Kozicz, T, Morava, E. Congenital disorders of glycosylation: new defects and still counting. J Inherit Metab Dis 2014; 37: 609617.CrossRefGoogle ScholarPubMed
Martin, PT. Congenital muscular dystrophies involving the O-mannose pathway. Curr Mol Med 2007; 7: 417425.CrossRefGoogle ScholarPubMed
Freeze, HH, Chong, JX, Bamshad, MJ, Ng, BG. Solving glycosylation disorders: fundamental approaches reveal complicated pathways. Am J Hum Genet 2014; 94: 161175.CrossRefGoogle ScholarPubMed
Kapusta, L, Zucker, N, Frenckel, G et al. From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG). Heart Fail Rev 2013; 18: 187196.CrossRefGoogle Scholar
Tegtmeyer, LC, Rust, S, van Scherpenzeel, M et al. Multiple phenotypes in phosphoglucomutase 1 deficiency. N Engl J Med 2014; 370: 533542.CrossRefGoogle ScholarPubMed
Malhotra, A, Pateman, A, Chalmers, R, Coman, D, Menahem, S. Prenatal cardiac ultrasound finding in congenital disorder of glycosylation type 1a. Fetal Diagn Ther 2009; 25: 5457.CrossRefGoogle ScholarPubMed
Gehrmann, J, Sohlbach, K, Linnebank, M et al. Cardiomyopathy in congenital disorders of glycosylation. Cardiol Young 2003; 13: 345351.CrossRefGoogle ScholarPubMed
Rudaks, LI, Andersen, C, Khong, TY et al. Hypertrophic cardiomyopathy with cardiac rupture and tamponade caused by congenital disorder of glycosylation type Ia. Pediatr Cardiol 2012; 33: 827830.CrossRefGoogle ScholarPubMed
Santos, PC, Krieger, JE, Pereira, AC. Molecular diagnostic and pathogenesis of hereditary hemochromatosis. Int J Mol Sci 2012; 13: 14971511.CrossRefGoogle ScholarPubMed
Bardou-Jacquet, E, Ben Ali, Z, Beaumont-Epinette, MP et al. Non-HFE hemochromatosis: pathophysiological and diagnostic aspects. Clin Res Hepatol Gastroenterol 2014; 38: 143154.CrossRefGoogle ScholarPubMed
Cazzola, M, Ascari, E, Barosi, G et al. Juvenile idiopathic haemochromatosis: a life-threatening disorder presenting as hypogonadotropic hypogonadism. Hum Genet 1983; 65: 149154.CrossRefGoogle ScholarPubMed
Lopriore, E, Mearin, ML, Oepkes, D, Devlieger, R, Whitington, PF. Neonatal hemochromatosis: management, outcome, and prevention. Prenat Diagn 2013; 33: 12211225.CrossRefGoogle Scholar
Feldman, AG, Whitington, PF. Neonatal hemochromatosis. J Clin Exp Hepatol 2013; 3: 313320.CrossRefGoogle ScholarPubMed
Collardeau-Frachon, S, Heissat, S, Bouvier, R. French retrospective multicentric study of neonatal hemochromatosis: importance of autopsy and autoimmune maternal manifestations. Pediatr Dev Pathol 2012; 15: 450470.CrossRefGoogle ScholarPubMed
Lazure, T, Beauchamp, A, Croisille, L et al. Congenital anerythremic erythroleukemia presenting as hepatic failure. Arch Pathol Lab Med 2003; 127: 13621365.Google ScholarPubMed
Nyhan, WL, Bareshop, BA, Ozand, PT. Organic acidemias. In Nyhan, WL, Bareshop, BA, Ozand, PT (eds) Atlas of Metabolic Diseases, 2nd edn. London: Hodder Arnold; 2005, pp. 37.Google Scholar
Lee, TM, Addonizio, LJ, Barshop, BA, Chung, WK. Unusual presentation of propionic acidaemia as isolated cardiomyopathy. J Inherit Metab Dis 2009; 32 (Suppl 1): S97–101.CrossRefGoogle ScholarPubMed
Massoud, AF, Leonard, JV. Cardiomyopathy in propionic acidaemia. Eur J Pediatr 1993; 152: 441445.CrossRefGoogle ScholarPubMed
Kakavand, B, Schroeder, VA, Di Sessa, TG. Coincidence of long QT syndrome and propionic acidemia. Pediatr Cardiol 2006; 27: 160161.CrossRefGoogle ScholarPubMed
Prada, CE, Al Jasmi, F, Kirk, EP et al. Cardiac disease in methylmalonic acidemia. J Pediatr 201; 159: 862864.CrossRef
van den Bergh, FA, del Canho, H, Duran, M. Methylmalonic aciduria and sudden child death. J Inherit Metab Dis 1992; 15: 897898.CrossRefGoogle ScholarPubMed
De Bie, I, Nizard, SD, Mitchell, GA. Fetal dilated cardiomyopathy: an unsuspected presentation of methylmalonic aciduria and hyperhomocystinuria, cblC type. Prenat Diagn 2009; 29: 266270.CrossRefGoogle ScholarPubMed
Wortmann, SB, Duran, M, Anikster, Y et al. Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature. J Inherit Metab Dis 2013; 36: 923928.CrossRefGoogle ScholarPubMed
Barth, PG, Wanders, RJ, Vreken, P et al. X-linked cardioskeletal myopathy and neutropenia (Barth syndrome). J Inherit Metab Dis 1999; 22: 555567.CrossRefGoogle Scholar
Clarke, SL, Bowron, A, Gonzalez, IL et al. Barth syndrome. Orphanet J Rare Dis 2013; 8: 23.CrossRefGoogle ScholarPubMed
Bleyl, SB, Mumford, BR, Thompson, V et al. Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome. Am J Hum Genet 1997; 61: 868872.CrossRefGoogle ScholarPubMed
Spencer, CT, Byrne, BJ, Gewitz, MH et al. Ventricular arrhythmia in the X-linked cardiomyopathy Barth syndrome. Pediatr Cardiol 2005; 26: 632637.CrossRefGoogle ScholarPubMed
Davey, KM, Parboosingh, JS, McLeod, DR, et al. Mutation of DNAJC19, a human homologue of yeast inner mitochondrial co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition. J Med Genet 2006; 43: 385393.CrossRefGoogle ScholarPubMed
Edwards, MA, Green, A, Colli, A, Rylance, G. Tyrosinaemia type I and hypertrophic obstructive cardiomyopathy. Lancet 1987; 329: 14371438.CrossRefGoogle Scholar
Russo, P, O’Regan, S. Visceral pathology of hereditary tyrosinemia type I. Am J Hum Genet 1990; 47: 317324.Google ScholarPubMed
Salido, E, Pey, AL, Rodriguez, R, Lorenzo, V. Primary hyperoxalurias: disorders of glyoxylate detoxification. Biochim Biophys Acta 2012; 1822: 14531464.Google Scholar
Lieske, JC, Monico, CG, Holmes, WS et al. International registry for primary hyperoxaluria. Am J Nephrol 2005; 25: 290296.CrossRefGoogle ScholarPubMed
Sweet, ME, Mestroni, L, Taylor, MRG. Genetic infiltrative cardiomyopathies. Heart Fail Clin 2018; 14: 215224.CrossRefGoogle ScholarPubMed
Mookadam, F, Smith, T, Jiamsripong, P et al. Cardiac abnormalities in primary hyperoxaluria. Circ J 2010; 74: 24032409.CrossRefGoogle ScholarPubMed
Chaplin, AJ. Histopathological occurrence and characterisation of calcium oxalate: a review. J Clin Pathol 1977; 30: 800811.CrossRefGoogle ScholarPubMed
Saito, T, Ikeda, M, Asai, K, Shimizu, W. Crystalline cardiomyopathy due to secondary oxalosis after short-bowel syndrome and end-stage renal failure. Clin Res Cardiol 2016; 105: 714716.CrossRefGoogle ScholarPubMed
Fayemi, AO, Ali, M, Braun, EV. Oxalosis in hemodialysis patients: a pathologic study of 80 cases. Arch Pathol Lab Med 1979; 103: 5862.Google ScholarPubMed
Mudd, SH, Skovby, F, Levy, HL et al. The natural history of homocystinuria due to cystathionine β-synthase deficiency. Am J Hum Genet 1985; 37: 131.Google ScholarPubMed
Yap, S, Naughten, ER, Wilcken, B, Wilcken, DE, Boers, GH. Vascular complications of severe hyperhomocysteinemia in patients with homocystinuria due to cystathionine beta-synthase deficiency: effects of homocysteine-lowering therapy. Semin Thromb Hemost 2000; 26: 335340.CrossRefGoogle ScholarPubMed
Public Health England. Newborn-blood-spot-screening-programme-supporting-publications. July 2012. (accessed 27 March 2019).
James, TN, Carson, NA, Froggatt, P. De subitaneis mortibus. IV. Coronary vessels and conduction system in homocystinuria. Circulation 1974; 49: 367374.CrossRefGoogle ScholarPubMed

Send book to Kindle

To send this book to your Kindle, first ensure is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about sending to your Kindle.

Note you can select to send to either the or variations. ‘’ emails are free but can only be sent to your device when it is connected to wi-fi. ‘’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

Available formats

Send book to Dropbox

To send content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about sending content to Dropbox.

Available formats

Send book to Google Drive

To send content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about sending content to Google Drive.

Available formats