![]() When two carriers of an autosomal recessive disease have children, there is a 25% (1 in 4) chance to have a child who has the disease. Carriers of an autosomal recessive disease usually do not have any symptoms of the disease. Each parent is a carrier which means they have a pathogenic variant in only one copy of the gene. Mutation is an older term that is still sometimes used to mean pathogenic variant.Ī person who has an autosomal recessive disease receives a gene with a pathogenic variant from each of their parents. Recessive means that both copies of the responsible gene must have a disease-causing change (pathogenic variant) in order for a person to have the disease. Genes, like chromosomes, usually come in pairs. Autosomal means the gene is located on any chromosome except the X or Y chromosomes (sex chromosomes). 2010 68(6):876–87.Autosomal means the gene is located on any chromosome except the X or Y chromosomes (sex chromosomes). Mucopolysaccharidosis type IIIA: clinical spectrum and genotype–phenotype correlations. Valstar MJ, Neijs S, Bruggenwirth HT, Olmer R, Ruijter GJ, Wevers RA, et al. Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C) Am J Hum Genet. 2001 18(4):264–81.įan X, Zhang H, Zhang S, Bagshaw RD, Tropak MB, Callahan JW, et al. Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: diagnostic, clinical, and biological implications. Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy. Wraith JE, Scarpa M, Beck M, Bodamer OA, De Meirleir L, Guffon N, et al. The metabolic and molecular basis of inherited disease. In: Scriver CR, Beaudet A, Sly WS, Valle D, editors. Incidence Newborn screening Prevalence Rare disease registry. Efforts should be focused in the establishment of a national rare disease registry with mandated reporting from every state as well as newborn screening of MPS. Nonetheless, state-level studies in the US supported these figures. Due to the large US population and state fragmentation, US incidence and prevalence were found to be lower than other countries. This is the most comprehensive review of MPS incidence and prevalence rates in the US. Birth incidences of MPS IV, VI, and VII were 0.14, 0.04 and 0.027 per 100,000 live births. MPS I, II, and III had the highest incidence rate at birth (0.26/100,000) and prevalence rates of 0.70-0.71 per million. Prevalence was found to be 2.67 per 1 million. Incidence of MPS in the US was found to be 0.98 per 100,000 live births. We obtained information from 789 MPS patients during a 20-year period. Incidence rates were calculated for each state. The incidence and prevalence rates were calculated for each disease. US population information was obtained from the National Center for Health Statistics. Data included year of birth, patient geographic location, and MPS variant type. This retrospective study examined all diagnosed cases of MPS from 1995 to 2015 in the US using the National MPS Society database records. This study aimed to identify MPS incidence and prevalence in the US at a national and state level to guide clinicians and policy makers. Previous studies on incidence and prevalence of MPS mainly focused on countries other than the United States (US), showing considerable variation by country. Mucopolysaccharidoses (MPS) are rare, inherited lysosomal storage disorders characterized by progressive multiorgan involvement.
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