TY  - JOUR
T1  - PRevalence of lysosomal storage disorders
AU  - Meikle PJ, Hopwood JJ, Clague AE, Carey WF
Y1  - 1999/01/20
N1  - 10.1001/jama.281.3.249
JO  - JAMA
SP  - 249
EP  - 254
VL  - 281
IS  - 3
N2  - 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
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.
SN  - 0098-7484
M3  - doi: 10.1001/jama.281.3.249
UR  - http://dx.doi.org/10.1001/jama.281.3.249
ER  -