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Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of Lysosomal Storage Disorders. JAMA. 1999;281(3):249–254. doi:10.1001/jama.281.3.249
Author Affiliations: Lysosomal Diseases Research Unit and National Referral Laboratory, Department of Chemical Pathology, Women's and Children's Hospital, Adelaide, Australia (Drs Meikle, Hopwood, and Carey); and the Division of Chemical Pathology, Royal Brisbane Hospitals Campus, Queensland Health Pathology Service, Brisbane, Australia (Dr Clague).
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
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,
Main Outcome Measure Enzymatic diagnosis of a lysosomal storage
Results Twenty-seven different lysosomal storage disorders were
diagnosed in 545 individuals. The prevalence ranged from 1 per
57,000 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.
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