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Chapter 10 - Metabolic and Storage Disease

Published online by Cambridge University Press:  19 August 2019

Michael T. Ashworth
Michael T. Ashworth
Affiliation:
Great Ormond Street Hospital for Children, London
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Summary

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.

Keywords

storagelysosomeglycogenmucopolysaccharidelipidhaemochromatosisGaucherFabryPompeoxidation
Type
Chapter
Information
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

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References

Cox, GF. Diagnostic approaches to pediatric cardiomyopathy of metabolic genetic etiologies and their relation to therapy. Prog Pediatr Cardiol 2007; 24: 15–25.Google Scholar
Wicks, EC, Elliott, PM. Genetics and metabolic cardiomyopathies. Herz 2012; 37: 598–611.Google Scholar
Roach, PJ, Depaoli-Roach, AA, Hurley, TD, Tagliabracci, VS. Glycogen and its metabolism: some new developments and old themes. Biochem J 2012; 441: 763–787.Google Scholar
Servidei, S, Bertini, E, DiMauro, S. Hereditary metabolic cardiomyopathies. Adv Pediatr 1994; 41: 1–32.Google Scholar
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: 713–716.Google Scholar
Güngör, D, Reuser, AJ. How to describe the clinical spectrum in Pompe disease? Am J Med Genet A 2013; 161A: 399–400.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: 462–469.Google Scholar
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: 947–956.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: 210–219.Google Scholar
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: 747–750.Google Scholar
Lim, JA, Li, L, Raben, N. Pompe disease: from pathophysiology to therapy and back again. Front Aging Neurosci 2014; 6: 177.Google 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: 133–139.Google Scholar
Maron, BJ, Roberts, WC, Arad, M et al. Clinical outcome and phenotypic expression in LAMP2 cardiomyopathy. JAMA 2009; 301: 1253–1259.Google Scholar
Yang, Z, McMahon, CJ, Smith, LR et al. Danon disease as a frequent cause of hypertrophic cardiomyopathy in children. Circulation 2005; 12: 1612–1617.Google Scholar
Arad, M, Maron, BJ, Gorham, JM et al. Glycogen storage diseases presenting as hypertrophic cardiomyopathy. N Eng J Med 2005; 352: 362–372.Google Scholar
Sugie, K, Yamamoto, A, Murayama, K et al. Clinicopathological features of genetically confirmed Danon disease. Neurology 2002; 58: 1773–1778.Google Scholar
Yamamoto, A, Morisawa, Y, Verloes, A et al. Infantile autophagic vacuolar myopathy is distinct from Danon disease. Neurology 2001; 57: 903–905.Google Scholar
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: 1545–1548.Google Scholar
Labrune, P, Huguet, P, Odievre, M. Cardiomyopathy in glycogen-storage disease type III: clinical and echographic study of 18 patients. Pediatr Cardiol 1991; 12: 161–163.Google Scholar
Austin, SL, Proia, AD, Spencer-Manzon, MJ et al. Cardiac pathology in glycogen storage disease type III. JIMD Rep 2012; 6: 65–72.Google Scholar
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: 177–188.Google Scholar
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: 187–193.Google Scholar
Tang, TT, Segura, AD, Chen, Y-T et al. Neonatal hypotonia and cardiomyopathy secondary to type IV glycogenosis. Acta Neuropathol 1994; 87: 531–536.Google Scholar
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: 419–430.Google 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: 337–340.Google Scholar
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: 171–176.CrossRefGoogle ScholarPubMed
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: 303–307.Google Scholar
Servidei, S, Metlay, LA, Chodosh, J, DiMauro, S. Fatal infantile cardiopathy caused by phosphorylase b kinase deficiency. J Pediatr 1988; 113: 82–85.Google Scholar
Regalado, JJ, Rodriguez, MM, Ferrer, PL. Infantile hypertrophic cardiomyopathy of glycogenosis type IX: isolated cardiac phosphorylase kinase deficiency. Pediatr Cardiol 1999; 20: 304–307.Google Scholar
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: 1034–1049.Google 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: 1203–1210.Google Scholar
Malfatti, E, Nilsson, J, Hedberg-Oldfors, C et al. A new muscle glycogen storage disease associated with glycogenin-1 deficiency. Ann Neurol 2014; 76: 891–898.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: 16–20.Google Scholar
Gardiner, A, Scalco, R, Pitceathly, R et al. Glycogen storage disease type XV: A case report. Neuromuscul Disord 2015; 25: S221.Google 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: 162–165.Google 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: 378–382.Google 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: 499–504.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: 11–14.Google Scholar
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: 86–92.Google Scholar
Laney, DA, Peck, DS, Atherton, AM et al. Fabry disease in infancy and early childhood: a systematic literature review. Genet Med 2015; 17: 323–330.Google Scholar
Hopkin, RJ, Bissler, J, Banikazemi, M et al. Characterization of Fabry disease in 352 pediatric patients in the Fabry Registry. Pediatr Res 2008; 64: 550–555.Google Scholar
Linhart, A, Elliott, PM. The heart in Anderson–Fabry disease and other lysosomal storage disorders. Heart 2007; 93: 528–535.Google Scholar
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: 211–217.Google Scholar
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: 1000–1003.Google Scholar
Westwood, M. Endocardial fibroelastosis and Niemann–Pick disease. Br Heart J 1977; 39: 1394–1396.Google Scholar
Wraith, JE. The mucopolysaccharidoses: a clinical review and guide to management. Arch Dis Child 1995; 72: 263–267.Google Scholar
Mohan, UR, Hay, AA, Cleary, MA, Wraith, JE, Patel, RG. Cardiovascular changes in children with mucopolysaccharide disorders. Acta Paediatr 2002; 91: 799–804.Google Scholar
Braunlin, EA, Harmatz, PR, Scarpa, M et al. Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management. J Inherit Metab Dis 2011; 34: 1183–1197.CrossRefGoogle ScholarPubMed
Wippermann, CF, Beck, M, Schranz, D et al. Mitral and aortic regurgitation in 84 patients with mucopolysaccharidoses. Eur J Pediatr 1995; 154: 98–101.Google Scholar
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: 534–538.Google Scholar
Leal, GN, de Paula, AC, Leone, C, Kim, CA. Echocardiographic study of paediatric patients with mucopolysaccharidosis. Cardiol Young 2010; 20: 254–261.Google Scholar
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: 649–653.Google Scholar
Van Veldhoven, PP. Biochemistry and genetics of inherited disorders of peroxisomal fatty acid metabolism. J Lipid Res 2010; 51: 2863–2895.Google Scholar
Van Der Vusse, GJ, Van Bilsen, M, Glatz, JFC. Cardiac fatty acid uptake and transport in health and disease. Cardiovasc Res 2000; 45: 279–293.Google Scholar
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: 263–276.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: 521–526.Google Scholar
Vishwanath, VA. Fatty acid beta-oxidation disorders: a brief review. Ann Neurosci 2016; 23: 51–55.Google Scholar
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: 2248–2253.CrossRefGoogle ScholarPubMed
Preece, MA, Green, A. Pregnancy and inherited metabolic disorders: maternal and fetal complications. Ann Clin Biochem 2002; 39: 444–455.Google Scholar
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: 247–253.Google 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 patients. Pediatrics 2002; 109: 99–104.Google 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: 598–607.Google Scholar
Fletcher, AL, Pennesi, ME, Harding, CO, Weleber, RG, Gillingham, MB. Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies. Mol Genet Metab 2012; 106: 18–24.Google Scholar
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: 190–196.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: 77–85.Google Scholar
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: 238–245.Google Scholar
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: 1239–1245.Google Scholar
Chalmers, RA, Stanley, CA, English, N, Wigglesworth, JS. Mitochondrial carnitine-acylcarnitine translocase deficiency presenting as sudden neonatal death. J Pediatr 1997; 131: 220–225.Google Scholar
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: 573–579.Google 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: 11–20.Google Scholar
Hug, G, Bove, KE, Soukup, S. Lethal neonatal multiorgan deficiency of carnitine palmitoyltransferase II. N Engl J Med 1991; 325: 1862–1864.Google Scholar
Scott, K, Gadomski, T, Kozicz, T, Morava, E. Congenital disorders of glycosylation: new defects and still counting. J Inherit Metab Dis 2014; 37: 609–617.Google Scholar
Martin, PT. Congenital muscular dystrophies involving the O-mannose pathway. Curr Mol Med 2007; 7: 417–425.Google Scholar
Freeze, HH, Chong, JX, Bamshad, MJ, Ng, BG. Solving glycosylation disorders: fundamental approaches reveal complicated pathways. Am J Hum Genet 2014; 94: 161–175.Google Scholar
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: 187–196.Google Scholar
Tegtmeyer, LC, Rust, S, van Scherpenzeel, M et al. Multiple phenotypes in phosphoglucomutase 1 deficiency. N Engl J Med 2014; 370: 533–542.Google Scholar
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: 54–57.Google Scholar
Gehrmann, J, Sohlbach, K, Linnebank, M et al. Cardiomyopathy in congenital disorders of glycosylation. Cardiol Young 2003; 13: 345–351.Google Scholar
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: 827–830.Google Scholar
Santos, PC, Krieger, JE, Pereira, AC. Molecular diagnostic and pathogenesis of hereditary hemochromatosis. Int J Mol Sci 2012; 13: 1497–1511.Google Scholar
Bardou-Jacquet, E, Ben Ali, Z, Beaumont-Epinette, MP et al. Non-HFE hemochromatosis: pathophysiological and diagnostic aspects. Clin Res Hepatol Gastroenterol 2014; 38: 143–154.Google Scholar
Cazzola, M, Ascari, E, Barosi, G et al. Juvenile idiopathic haemochromatosis: a life-threatening disorder presenting as hypogonadotropic hypogonadism. Hum Genet 1983; 65: 149–154.Google Scholar
Lopriore, E, Mearin, ML, Oepkes, D, Devlieger, R, Whitington, PF. Neonatal hemochromatosis: management, outcome, and prevention. Prenat Diagn 2013; 33: 1221–1225.Google Scholar
Feldman, AG, Whitington, PF. Neonatal hemochromatosis. J Clin Exp Hepatol 2013; 3: 313–320.Google Scholar
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: 450–470.CrossRefGoogle ScholarPubMed
Lazure, T, Beauchamp, A, Croisille, L et al. Congenital anerythremic erythroleukemia presenting as hepatic failure. Arch Pathol Lab Med 2003; 127: 1362–1365.Google Scholar
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. 3–7.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.Google Scholar
Massoud, AF, Leonard, JV. Cardiomyopathy in propionic acidaemia. Eur J Pediatr 1993; 152: 441–445.Google Scholar
Kakavand, B, Schroeder, VA, Di Sessa, TG. Coincidence of long QT syndrome and propionic acidemia. Pediatr Cardiol 2006; 27: 160–161.Google Scholar
Prada, CE, Al Jasmi, F, Kirk, EP et al. Cardiac disease in methylmalonic acidemia. J Pediatr 201; 159: 862–864.Google Scholar
van den Bergh, FA, del Canho, H, Duran, M. Methylmalonic aciduria and sudden child death. J Inherit Metab Dis 1992; 15: 897–898.Google Scholar
De Bie, I, Nizard, SD, Mitchell, GA. Fetal dilated cardiomyopathy: an unsuspected presentation of methylmalonic aciduria and hyperhomocystinuria, cblC type. Prenat Diagn 2009; 29: 266–270.Google Scholar
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: 923–928.Google Scholar
Barth, PG, Wanders, RJ, Vreken, P et al. X-linked cardioskeletal myopathy and neutropenia (Barth syndrome). J Inherit Metab Dis 1999; 22: 555–567.Google Scholar
Clarke, SL, Bowron, A, Gonzalez, IL et al. Barth syndrome. Orphanet J Rare Dis 2013; 8: 23.Google Scholar
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: 868–872.Google Scholar
Spencer, CT, Byrne, BJ, Gewitz, MH et al. Ventricular arrhythmia in the X-linked cardiomyopathy Barth syndrome. Pediatr Cardiol 2005; 26: 632–637.Google Scholar
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: 385–393.Google Scholar
Edwards, MA, Green, A, Colli, A, Rylance, G. Tyrosinaemia type I and hypertrophic obstructive cardiomyopathy. Lancet 1987; 329: 1437–1438.Google Scholar
Russo, P, O’Regan, S. Visceral pathology of hereditary tyrosinemia type I. Am J Hum Genet 1990; 47: 317–324.Google Scholar
Salido, E, Pey, AL, Rodriguez, R, Lorenzo, V. Primary hyperoxalurias: disorders of glyoxylate detoxification. Biochim Biophys Acta 2012; 1822: 1453–1464.Google Scholar
Lieske, JC, Monico, CG, Holmes, WS et al. International registry for primary hyperoxaluria. Am J Nephrol 2005; 25: 290–296.Google Scholar
Sweet, ME, Mestroni, L, Taylor, MRG. Genetic infiltrative cardiomyopathies. Heart Fail Clin 2018; 14: 215–224.Google Scholar
Mookadam, F, Smith, T, Jiamsripong, P et al. Cardiac abnormalities in primary hyperoxaluria. Circ J 2010; 74: 2403–2409.Google Scholar
Chaplin, AJ. Histopathological occurrence and characterisation of calcium oxalate: a review. J Clin Pathol 1977; 30: 800–811.Google Scholar
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: 714–716.CrossRefGoogle ScholarPubMed
Fayemi, AO, Ali, M, Braun, EV. Oxalosis in hemodialysis patients: a pathologic study of 80 cases. Arch Pathol Lab Med 1979; 103: 58–62.Google Scholar
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: 1–31.Google Scholar
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: 335–340.Google Scholar
Public Health England. Newborn-blood-spot-screening-programme-supporting-publications. July 2012. www.gov.uk/government/collections/newborn-blood-spot-screening-programme-supporting-publications (accessed 27 March 2019).Google Scholar
James, TN, Carson, NA, Froggatt, P. De subitaneis mortibus. IV. Coronary vessels and conduction system in homocystinuria. Circulation 1974; 49: 367–374.Google Scholar

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