ArticleThe Lancet regional health. Western Pacific2022
Prevalence of lysosomal storage disorders in Australia from 2009 to 2020.
Article in The Lancet regional health. Western Pacific, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 4 of them syntheses that pooled it.
What it found
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Who cites it
32 citing papers in PubMed, 4 syntheses or guidelines pooled it, 42 citations in OpenAlex.
- Sphingolipids in Gaucher disease: a systematic review.Orphanet journal of rare diseases · 2025Pooled it
- A systematic review on the birth prevalence of metachromatic leukodystrophy.Orphanet journal of rare diseases · 2024Pooled it
- Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann-Pick disease types A, B and A/B).Orphanet journal of rare diseases · 2023Guideline
- Inherited metabolic disorders in adults: systematic review on patient characteristics and diagnostic yield of broad sequencing techniques (exome and genome sequencing).Frontiers in neurology · 2023Pooled it
- Drug screen and machine learning predict neuroprotective agents in a preclinical human model of childhood dementia.Nature communications · 2026Article
- Short-Term Oral Spermidine Supplementation Modifies Aspects of Neurodegenerative Disease in Flies and Mice With MPS III.Journal of inherited metabolic disease · 2026Article
- An Australian standard of care for Niemann-Pick disease type C.Internal medicine journal · 2026Article
- Modelling synaptic dysfunction in childhood dementia using human iPSC-derived cortical networks.Nature communications · 2026Article
- Olipudase alfa treatment for pediatric acid sphingomyelinase deficiency in Egypt: A prospective, observational cohort study with an interventional subgroup.Molecular genetics and metabolism reports · 2026Article
- A Retrospective Chart Review Study on the Burden of Illness of Acid Sphingomyelinase Deficiency in Brazil.Journal of clinical medicine · 2026Article
- Modelling human proteostasis and organelle homeostasis disorders in yeast and its application in drug discovery.FEMS yeast research · 2026Review
- Human, economic, and social impact of lysosomal storage diseases.Orphanet journal of rare diseases · 2025Article
- A multi-omics-empowered framework for precision diagnosis and treatment of lysosomal diseases.Journal of pharmaceutical analysis · 2025Review
- Genetic Insights and Diagnostic Challenges in Highly Attenuated Lysosomal Storage Disorders.Genes · 2025Review
- Cultured Macrophage Models for the Investigation of Lysosomal Glucocerebrosidase and Gaucher Disease.International journal of molecular sciences · 2025Article
- Novel Phenotypical and Biochemical Findings in Mucolipidosis Type II.International journal of molecular sciences · 2025Article
- Extrarenal manifestations in inherited kidney diseases.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2025Review
- Fabry Disease Podocytes Reveal Ferroptosis as a Potential Regulator of Cell Pathology.Kidney international reports · 2025Article
- Extracellular Vesicles as Tools for Crossing the Blood-Brain Barrier to Treat Lysosomal Storage Diseases.Life (Basel, Switzerland) · 2025Review
- Review
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundLysosomal 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.
methodsFrom 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.
findingsDuring 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.
interpretationThe 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.
fundingNo funding was received for this study.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.