Diagnosis and prevention of lysosomal storage diseases in Russia

Krasnopolskaya, K. D.; Mirenburg, T. V.; Aronovich, Elena L.; Lebedeva, T. V.; Odinokova, O.; Демина, Н. А.; Козлова, В. М.; Кузнецов, М. И.

doi:10.1007/bf00711517

Cited by 10 publications

(5 citation statements)

References 17 publications

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“…For some diseases, this is a setback due to their relative frequency, which can affect the calculation of a precise combined incidence; such is the case for MPS II, MPS III A, MPS IV A, Krabbe disease, and NiemannPick C disease. If these enzyme defects would have been assayed, and considering the average prevalence/incidence reported by other authors, our combined incidence would approach 8.0/100,000, which is very similar to that reported in British Columbia (Applegarth et al, 2000), but still lower than the rest of the epidemiological studies (Krasnopolskaya et al, 1993;Meikle et al, 1999;Poorthuis et al, 1999;Pinto et al, 2004;Poupetová et al, 2010). Another is the case for neuronal ceroid lipofuscinoses (NCL), for which relatively high prevalences have been reported in Portugal, Czech Republic and Finland (2.14, 2.29 and 12.5 per 100,000, respectively ;Santavuori, 1988;Pinto et al, 2004;Poupetová et al, 2010).…”

Section: Discussionsupporting

confidence: 73%

High proportion of mannosidosis and fucosidosis among lysosomal storage diseases in Cuba

et al. 2012

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Section: Discussionsupporting

confidence: 73%

High proportion of mannosidosis and fucosidosis among lysosomal storage diseases in Cuba

et al. 2012

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“…Several of the studies report numbers of cases detected, but are unclear about the size of the denominator population. [42][43][44][45] The best conducted studies and those most relevant to the UK would appear to be the Dutch, 46 Frequency studies of disease-causing mutations in the gene for glucocerebrosidase have been reported for those diagnosed with Gaucher's disease 19,20 and general populations; these indicate that, at least for some mutations such as N370S, many asymptomatic individuals exist who are mutant at both alleles but never come to the attention of medical services for Gaucher's disease-related manifestations. 8 This, together with the large number of identified different disease-causing mutations, means that these studies are of little use in estimating the overall numbers of diagnosed cases, their severity and the consequent requirements for service provision.…”

Section: Prevalencementioning

confidence: 99%

The clinical effectiveness and cost-effectiveness of enzyme replacement therapy for Gaucher's disease: a systematic review

Connock¹,

Burls²,

Frew³

et al. 2006

Health Technol Assess

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“…Linkage disequilibrium studies similar to those used to suggest the presence of W402X and Q70X (Scott et al, 1992e) may be possible in an extended Italian patient group, where only 50% of alleles are defined, or new patient groups such as a Russian patient group (Krasnopolskaya et al, 1993) to suggest the presence of common mutations. Alternatively, with present mutation detection technology, it may be simpler to define mutations in a limited number of patients and then screen the entire patient group.…”

Section: Common Mutations and Mutation Frequencies In Patient Groupsmentioning

confidence: 99%

Molecular genetics of muccpolysaccharidosis type I: Diagnostic, clinical, and biological implications

et al. 1995

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Mucopolysaccharidosis type I (MPS-I) is an autosomal recessive disease caused by mutations in the alpha-L-iduronidase (IDUA) gene. These mutations lead to a deficiency of the glycosidase alpha-L-iduronidase (IDUA), which is required for the degradation of heparan sulphate and dermatan sulphate and thus the storage of these glycosaminoglycans in the lysosome. There is a wide range of clinical phenotypes in MPS-I (eponyms: Hurler syndrome, severe; Hurler/Scheie syndrome, intermediate; Scheie syndrome, mild), which makes prediction of disease severity and genetic counselling difficult. However, since cloning of the IDUA gene, mutation analysis has provided some molecular explanations for the range of MPS-I phenotypes, in turn facilitating the selection and evaluation of patients undergoing experimental treatment protocols such as bone marrow transplantation. A total of 46 mutations now have been defined for MPS-I consisting of 8 nonsense mutations, 21 missense mutations, 3 splice site mutations, and 14 minor deletions and/or insertions. Furthermore, 30 polymorphisms or nonpathogenic sequence variants have been defined, including 7 amino acid substitutions. Among patients of European origin, there are two major MPS-I mutations and a number of less frequent mutations. It is possible to follow mutation analysis of 292 patients, which can be divided into eight main patient groups of different ethnic and/or geographic origin with significant variation in mutant allele frequencies. A complex picture of molecular heterogeneity is emerging, building a valuable database for genotype/phenotype correlation. Mutation analysis is also providing some of the first clues into the structure and function of IDUA.

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Diagnosis and prevention of lysosomal storage diseases in Russia

Cited by 10 publications

References 17 publications

High proportion of mannosidosis and fucosidosis among lysosomal storage diseases in Cuba

High proportion of mannosidosis and fucosidosis among lysosomal storage diseases in Cuba

The clinical effectiveness and cost-effectiveness of enzyme replacement therapy for Gaucher's disease: a systematic review

Molecular genetics of muccpolysaccharidosis type I: Diagnostic, clinical, and biological implications

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