Is it Fabry disease?

Genetics in Medicine

Volumn 18, Issue 12, 2016, Pages 1181-1185

  Schiffmann, Raphael ^a   Fuller, Maria ^b   Clarke, Lorne A ^c   Aerts, Johannes M F G ^d  

^a BAYLOR UNIVERSITY MEDICAL CENTER   (United States)

^b WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^c UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^d LEIDEN UNIVERSITY   (Netherlands)

Author keywords

benign variant; GLA gene; lysosomal storage disease; risk factor

Indexed keywords

ALPHA GALACTOSIDASE; GLOBOTRIAOSYLCERAMIDE; CERAMIDE TRIHEXOSIDE;

BIOPSY; ENZYME DEFICIENCY; FABRY DISEASE; GENE EXPRESSION; GENE MUTATION; GENETIC VARIABILITY; HUMAN; PATHOGENICITY; REVIEW; GENETICS; ISOLATION AND PURIFICATION; METABOLISM; MUTATION; PATHOLOGY;

ALPHA-GALACTOSIDASE; FABRY DISEASE; HUMANS; MUTATION; TRIHEXOSYLCERAMIDES;

EID: 85000714790     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2016.55     Document Type: Review

References (53)

1. Brady RO, Gal AE, Bradley RM, Martensson E, Warshaw AL, Laster L. Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency. N Engl J Med 1967;276:1163-1167.
2. Sweeley CC, Klionsky B. Fabry's disease: classification as a sphingolipidosis, partial characterization of a novel glycolipid. J Biol Chem 1963;238:3148-3150.
3. Eng CM, Ashley GA, Burgert TS, Enriquez AL, D'Souza M, Desnick RJ. Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic, variant phenotypes. Mol Med 1997;3:174-182.
4. Branton MH, Schiffmann R, Sabnis SG, et al. Natural history of Fabry renal disease: influence of alpha-galactosidase A activity, genetic mutations on clinical course. Medicine (Baltimore) 2002;81:122-138.
5. Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. JAMA 1999;281:249-254.
6. Spada M, Pagliardini S, Yasuda M, et al. High incidence of later-onset fabry disease revealed by newborn screening. Am J Hum Genet 2006;79:31-40.
7. Liao HC, Chiang CC, Niu DM, et al. Detecting multiple lysosomal storage diseases by tandem mass spectrometry-A national newborn screening program in Taiwan. Clin Chim Acta 2014;431:80-86.
8. Lin HY, Chong KW, Hsu JH, et al. High incidence of the cardiac variant of Fabry disease revealed by newborn screening in the Taiwan Chinese population. Circ Cardiovasc Genet 2009;2:450-456.
9. Inoue T, Hattori K, Ihara K, Ishii A, Nakamura K, Hirose S. Newborn screening for Fabry disease in Japan: prevalence, genotypes of Fabry disease in a pilot study. J Hum Genet 2013;58:548-552.
10. van der Tol L, Cassiman D, Houge G, et al. Uncertain diagnosis of fabry disease in patients with neuropathic pain, angiokeratoma or cornea verticillata: consensus on the approach to diagnosis, follow-up. JIMD Rep 2014;17:83-90.
11. Chien YH, Lee NC, Chiang SC, Desnick RJ, Hwu WL. Fabry disease: incidence of the common later-onset-galactosidase A IVS4+919GA mutation in Taiwanese newborns-superiority of DNA-based to enzyme-based newborn screening for common mutations. Mol Med 2012;18:780-784.
12. Sachdev B, Takenaka T, Teraguchi H, et al. Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy. Circulation 2002;105:1407-1411.
13. Monserrat L, Gimeno-Blanes JR, Marín F, et al. Prevalence of fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy. J Am Coll Cardiol 2007;50:2399-2403.
14. Rolfs A, Fazekas F, Grittner U, et al. Acute cerebrovascular disease in the young: the stroke in young fabry patients study. Stroke 2013;44:340-349.
15. Wallin EF, Clatworthy MR, Pritchard NR. Fabry disease: results of the first UK hemodialysis screening study. Clin Nephrol 2011;75:506-510.
16. Doi K, Noiri E, Ishizu T, et al. High-throughput screening identified diseasecausing mutants, functional variants of-galactosidase A gene in Japanese male hemodialysis patients. J Hum Genet 2012;57:575-579.
17. Desnick RJ, Allen KY, Desnick SJ, Raman MK, Bernlohr RW, Krivit W. Fabry's disease: enzymatic diagnosis of hemizygotes, heterozygotes. Alphagalactosidase activities in plasma, serum, urine, leukocytes. J Lab Clin Med 1973;81:157-171.
18. Sakuraba H, Oshima A, Fukuhara Y, et al. Identification of point mutations in the alpha-galactosidase A gene in classical, atypical hemizygotes with Fabry disease. Am J Hum Genet 1990;47:784-789.
19. Ferreira S, Ortiz A, Germain DP, et al. The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients, family studies. Mol Genet Metab 2015;114:248-258.
20. Andrade J, Waters PJ, Singh RS, et al. Screening for Fabry disease in patients with chronic kidney disease: limitations of plasma alpha-galactosidase assay as a screening test. Clin J Am Soc Nephrol 2008;3:139-145.
21. Leinekugel P, Michel S, Conzelmann E, Sandhoff K. Quantitative correlation between the residual activity of beta-hexosaminidase A, arylsulfatase A, the severity of the resulting lysosomal storage disease. Hum Genet 1992;88:513-523.
22. Chimenti C, Ricci R, Pieroni M, Natale L, Russo MA, Frustaci A. Cardiac variant of Fabry's disease mimicking hypertrophic cardiomyopathy. Cardiologia 1999;44:469-473.
23. Havndrup O, Christiansen M, Stoevring B, et al. Fabry disease mimicking hypertrophic cardiomyopathy: genetic screening needed for establishing the diagnosis in women. Eur J Heart Fail 2010;12:535-540.
24. Altarescu G, Moore DF, Schiffmann R. Effect of genetic modifiers on cerebral lesions in Fabry disease. Neurology 2005;64:2148-2150.
25. Shen Y, Bodary PF, Vargas FB, et al. Alpha-galactosidase A deficiency leads to increased tissue fibrin deposition, thrombosis in mice homozygous for the factor V Leiden mutation. Stroke 2006;37:1106-1108.
26. Lenders M, Karabul N, Duning T, et al. Thromboembolic events in Fabry disease, the impact of factor V Leiden. Neurology 2015;84:1009-1016.
27. Eng CM, Resnick-Silverman LA, Niehaus DJ, Astrin KH, Desnick RJ. Nature, frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease. Am J Hum Genet 1993;53:1186-1197.
28. Eng CM, Desnick RJ. Molecular basis of Fabry disease: mutations, polymorphisms in the human alpha-galactosidase A gene. Hum Mutat 1994;3:103-111.
29. Pasqualim G, Simon L, Sperb-Ludwig F, et al. Fabry disease: a new approach for the screening of females in high-risk groups. Clin Biochem 2014;47: 657-662.
30. Baptista MV, Ferreira S, Pinho-E-Melo T, et al.; PORTuguese Young STROKE Investigators. Mutations of the GLA gene in young patients with stroke: the PORTYSTROKE study-screening genetic conditions in Portuguese young stroke patients. Stroke 2010;41:431-436.
31. Lenders M, Duning T, Schelleckes M, et al. Multifocal white matter lesions associated with the D313Y mutation of the-galactosidase A gene. PLoS One 2013;8:e55565.
32. Yasuda M, Shabbeer J, Benson SD, Maire I, Burnett RM, Desnick RJ. Fabry disease: characterization of alpha-galactosidase A double mutations, the D313Y plasma enzyme pseudodeficiency allele. Hum Mutat 2003;22:486-492.
33. Froissart R, Guffon N, Vanier MT, Desnick RJ, Maire I. Fabry disease: D313Y is an alpha-galactosidase A sequence variant that causes pseudodeficient activity in plasma. Mol Genet Metab 2003;80:307-314.
34. Niemann M, Rolfs A, Giese A, et al. Lyso-Gb3 indicates that the alphagalactosidase a mutation D313Y is not clinically relevant for Fabry disease. JIMD Rep 2013;7:99-102.
35. Caetano F, Botelho A, Mota P, et al. Fabry disease presenting as apical left ventricular hypertrophy in a patient carrying the missense mutation R118C. Rev Port Cardiol 2014;33:183, e181-185.
36. Vockley J, Rinaldo P, Bennett MJ, Matern D, Vladutiu GD. Synergistic heterozygosity: disease resulting from multiple partial defects in one or more metabolic pathways. Mol Genet Metab 2000;71:10-18.
37. Phillips JA 3rd, Poling JS, Phillips CA, et al. Synergistic heterozygosity for TGFbeta1 SNPs, BMPR2 mutations modulates the age at diagnosis, penetrance of familial pulmonary arterial hypertension. Genet Med 2008;10:359-365.
38. Schelleckes M, Lenders M, Guske K, et al. Cryptogenic stroke, small fiber neuropathy of unknown etiology in patients with alpha-galactosidase A-10T genotype. Orphanet J Rare Dis 2014;9:178.
39. Desnick RJ, Doheny DO, Chena B, et al. Fabry disease: The-galactosidase A (GLA) c.427GNA (A143T) mutation, effect of the 5-10CNT polymorphism. Mol Genet Metab 2015; 114: S37.
40. Aerts JM, Groener JE, Kuiper S, et al. Elevated globotriaosylsphingosine is a hallmark of Fabry disease. Proc Natl Acad Sci USA 2008;105:2812-2817.
41. Niemann M, Rolfs A, Störk S, et al. Gene mutations versus clinically relevant phenotypes: lyso-Gb3 defines Fabry disease. Circ Cardiovasc Genet 2014;7: 8-16.
42. Smid BE, van der Tol L, Biegstraaten M, Linthorst GE, Hollak CE, Poorthuis BJ. Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease. J Med Genet 2015;52:262-268.
43. Ferraz MJ, Marques AR, Appelman MD, et al. Lysosomal glycosphingolipid catabolism by acid ceramidase: formation of glycosphingoid bases during deficiency of glycosidases. FEBS Lett 2016;590:716-725.
44. Mirzaian M, Wisse P, Ferraz MJ, et al. Mass spectrometric quantification of glucosylsphingosine in plasma, urine of type 1 Gaucher patients using an isotope standard. Blood Cells Mol Dis 2015;54:307-314.
45. Schiffmann R, Forni S, Swift C, et al. Risk of death in heart disease is associated with elevated urinary globotriaosylceramide. J Am Heart Assoc 2014;3:e000394.
46. Smid BE, van der Tol L, Cecchi F, et al. Uncertain diagnosis of Fabry disease: consensus recommendation on diagnosis in adults with left ventricular hypertrophy, genetic variants of unknown significance. Int J Cardiol 2014;177:400-408.
47. van der Tol L, Smid BE, Poorthuis BJ, et al. A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance. J Med Genet 2014;51:1-9.
48. Apelland T, Gude E, Strøm EH, et al. Familial globotriaosylceramide-associated cardiomyopathy mimicking Fabry disease. Heart 2014;100:1793-1798.
49. Strømme P, Månsson JE, Scott H, Skullerud K, Hovig T. Encephaloneuropathy with lysosomal zebra bodies, GM2 ganglioside storage. Pediatr Neurol 1997;16:141-144.
50. Askari H, Kaneski CR, Semino-Mora C, et al. Cellular, tissue localization of globotriaosylceramide in Fabry disease. Virchows Arch 2007;451: 823-834.
51. Xu S, Lun Y, Brignol N, et al. Coformulation of a novel human-galactosidase a with the pharmacological chaperone AT1001 leads to improved substrate reduction in Fabry mice. Mol Ther 2015;23:1169-1181.
52. Roy S, Touboul D, Brunelle A, et al. [Imaging mass spectrometry: a new tool for the analysis of skin biopsy. Application in Fabry's disease]. Ann Pharm Fr 2006;64:328-334.
53. Fuller M, Sharp PC, Rozaklis T, et al. Urinary lipid profiling for the identification of fabry hemizygotes, heterozygotes. Clin Chem 2005;51:688-694.