Prevalence of Lysosomal Storage Disorders

• Published in: JAMA : the journal of the American Medical Association Vol. 281; no. 3; pp. 249 - 254
• Main Authors: Meikle, Peter J, Hopwood, John J, Clague, Alan E, Carey, William F
• Format: Journal Article
• Language: English
• Published: Chicago, IL American Medical Association 20.01.1999
• Subjects: Australia - epidemiology; Biochemistry; Biological and medical sciences; Cost of Illness; Errors of metabolism; Genetics; Heterozygote; Humans; Incidence; Lipids (lysosomal enzyme disorders, storage diseases); Lysosomal Storage Diseases - economics; Lysosomal Storage Diseases - epidemiology; Lysosomal Storage Diseases - genetics; Medical disorders; Medical sciences; Metabolic diseases; Prevalence; Public health; Retrospective Studies; Australia; Oceania; Chromosomal aberration; Human; Immunopathology; Prevalence; Etiopathogenesis; Metabolic diseases; Gene expression; Lysosomal storage disease; Genetic determinism; Genetic disease; Prevention; Abnormal chromosome; Recessive character; Abnormal autosome; Public health

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 individ...