Prevalence of lysosomal storage disorders.

CONTEXT Lysosomal storage disorders represent a group of at least 41 genetically distinct, biochemically related, inherited diseases. Individually, these disorders are considered rare, although high prevalence values have been reported in some populations. These disorders are devastating for individuals and their families and result in considerable use of resources from health care systems; however, the magnitude of the problem is not well defined. To date, no comprehensive study has been performed on the prevalence of these disorders as a group. OBJECTIVE To determine the prevalence of lysosomal storage disorders individually and as a group in the Australian population. DESIGN Retrospective case studies. SETTING Australia, from January 1, 1980, through December 31, 1996. MAIN OUTCOME MEASURE Enzymatic diagnosis of a lysosomal storage disorder. RESULTS Twenty-seven different lysosomal storage disorders were diagnosed in 545 individuals. The prevalence ranged from 1 per 57000 live births for Gaucher disease to 1 per 4.2 million live births for sialidosis. Eighteen of 27 disorders had more than 10 diagnosed cases. As a group of disorders, the combined prevalence was 1 per 7700 live births. There was no significant increase in the rate of either clinical diagnoses or prenatal diagnoses of lysosomal storage disorders during the study period. CONCLUSIONS Individually, lysosomal storage disorders are rare genetic diseases. However, as a group, they are relatively common and represent an important health problem in Australia.

[1]  R. Donnelly,et al.  Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis. , 1997, Science.

[2]  J. Opitz,et al.  Batten disease: past, present, and future. , 1988, American journal of medical genetics. Supplement.

[3]  P. Meikle,et al.  Diagnosis of lysosomal storage disorders: evaluation of lysosome-associated membrane protein LAMP-1 as a diagnostic marker. , 1997, Clinical chemistry.

[4]  R. Van Tiggelen,et al.  Gaucher disease , 2019, Haematology.

[5]  H. Goebel,et al.  Incidence of neuronal ceroid-lipofuscinoses in West Germany: variation of a method for studying autosomal recessive disorders. , 1992, American journal of medical genetics.

[6]  M. Arvio,et al.  Early clinical symptoms and incidence of aspartylglucosaminuria in Finland , 1993, Acta paediatrica.

[7]  K. Figura,et al.  Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C) , 1981, Clinical genetics.

[8]  L. Peltonen,et al.  Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis , 1995, Nature.

[9]  L. Peltonen,et al.  Human palmitoyl protein thioesterase: evidence for lysosomal targeting of the enzyme and disturbed cellular routing in infantile neuronal ceroid lipofuscinosis. , 1996, The EMBO journal.

[10]  J. Rotter,et al.  The Tay-Sachs disease gene in North American Jewish populations: geographic variations and origin. , 1983, American journal of human genetics.

[11]  C. Bartsocas,et al.  Lysosomal storage diseases in Greece. , 1995, Genetic counseling.

[12]  C. Vargas,et al.  Selective screening of 10,000 high-risk Brazilian patients for the detection of inborn errors of metabolism , 1997, European Journal of Pediatrics.

[13]  B. Gelb,et al.  Pycnodysostosis, a Lysosomal Disease Caused by Cathepsin K Deficiency , 1996, Science.

[14]  A. Tylki-Szymańska,et al.  Lipidoses detected in Poland through 1993. , 1994, Pediatric neurology.

[15]  L. Lauronen,et al.  Neuronal ceroid lipofuscinoses in childhood. , 2000, Supplements to Clinical neurophysiology.