Prevalence of lysosomal storage disorders in Australia from 2009 to 2020

BACKGROUND: Lysosomal storage disorders (LSD) are a family of genetic diseases that have a devastating impact on the patient and family with a concomitant health burden. Although considered rare disorders, improved diagnostic capabilities, newborn screening programs and public awareness has witnessed the frequency of many LSD increase considerably over recent years. To quantify their footprint, the number of LSD diagnosed in the multicultural Australian population in a 12-year period was determined. The principle objective was to yield contemporary prevalence figures to inform public health policies. METHODS: From the national referral laboratory for LSD diagnoses in Australia, retrospective data from patient referrals and prenatal testing for the period January 1 2009 to December 31 2020 were collated. Diagnosis was established biochemically by enzyme activity and/or metabolite determinations, as well as molecular genetic testing. The incidence of each disorder was determined by dividing the number of postnatal diagnoses by the number of births with prevalence including prenatal diagnoses. FINDINGS: During this 12-year period 766 diagnosis of LSD were confirmed inclusive of 32 prenatal outcomes representing 38 individual disorders. Total diagnosis per 100,000 live births averaged 21 per year (range 16 – 26) with Fabry disease the most prevalent representing 34% of all diagnoses in the current (up to 2020) report. INTERPRETATION: The combined prevalence of LSD for this study period at 1 per 4,800 live births is considerably higher than 1 per 7,700 reported for a 17-year period up to 1996. Additionally, more adults were diagnosed than children, implying that LSD are more common in adulthood than childhood. These data highlight the requirements for physicians to consider LSD in symptomatic adults and should refigure public health policies steering newborn screening programs in the direction of adult-onset conditions. FUNDING: No funding was received for this study.