![]() ![]() 3 Hence, awareness and early diagnosis of these LSDs followed by prompt treatment enables alleviating the symptoms and stopping the progression of the disease. 1, 2 However, it has been noted that delaying the initiation of therapy results in disease progression and complications, which then persist even after therapy has commenced. As a result of treatment access, the natural history of these disorders has significantly changed, with a marked decrease in morbidity and mortality. The advent of enzyme replacement therapy followed by the development of substrate reduction and pharmacological chaperone therapies enabled different treatment alternatives for some of the common LSDs, including Gaucher (GD), Pompe (PD), and Fabry (FD) diseases (OMIM # 230800, 232 300, and 301 500, respectively). Lysosomal storage disorders (LSDs) are a group of about 50 inherited metabolic disorders resulting usually from mutations in the genes encoding lysosomal enzymes or enzymatic cofactors in the substrate degradation pathways. Selective screening for lysosomal diseases in minority groups in the United States shows higher prevalence rates and novel variants. The findings highlight a higher incidence of abnormal enzyme levels and pathogenic mutations in the target population reflecting ancestry-based specific genotype and phenotype variations. Regarding FD, two subjects had pathogenic GLA mutations, and four had single nucleotide polymorphisms in the 5'UTR, previously implicated in modulating gene expression. ![]() Targeted gene sequencing was performed on samples that showed significantly lower enzyme activities ( G p.T158A, (b) c.503G > T p.R168L, (c) c.1985del. Fluorimetric enzyme assays for GD, PD, and FD were performed on dried blood spots. Large-scale selective multistep biochemical and genetic screening was performed in patients seeking healthcare for various health concerns. The aim of the study was to determine the prevalence of the three treatable forms of lysosomal storage disorders (Gaucher disease, Pompe disease, and Fabry disease ) in a cohort of mostly urban-dwelling individuals of African ancestry, a previously unknown genetic landscape for LSDs. Population studies point to regional and ethnicity-specific differences in genetic predisposition for some lysosomal storage disorders (LSDs). ![]()
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