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The incidence of metachromatic leukodystrophy is estimated to occur in 1 in 40,000 to 1 in 160,000 individuals worldwide. [13] There is a much higher incidence in certain genetically isolated populations, such as 1 in 75 in Habbanites (a small group of Jews who immigrated to Israel from southern Arabia), 1 in 2,500 in the western portion of the ...
A new medical treatment that costs more than $4 million for metachromatic leukodystrophy (MLD) was approved recently by the FDA. MLD was recognized as a disease in the early 1900s, although ...
Inherited forms of leukodystrophy are usually the result of an autosomal recessive inheritance pattern, although dominant inheritance patterns are not unheard of, as in the case of adult-onset leukodystrophy. [14] This means that the affected allele is carried on an autosomal, or non-sex, chromosome and is masked by the dominant, unaffected ...
Many lipid storage disorders can be classified into the subgroup of sphingolipidoses, as they relate to sphingolipid metabolism. Members of this group include Niemann-Pick disease, Fabry disease, Krabbe disease, Gaucher disease, Tay–Sachs disease, metachromatic leukodystrophy, multiple sulfatase deficiency, and Farber disease.
Type of defect protein Disease examples Deficient protein Lysosomal enzymes primarily: Tay–Sachs disease, I-cell disease, [7] Sphingolipidoses (e.g., Krabbe disease, gangliosidosis: Gaucher, Niemann–Pick disease and glycolipids: Metachromatic leukodystrophy), Lysosomal acid lipase deficiency
Atidarsagene autotemcel, sold under the brand name Libmeldy among others, is a gene therapy treatment for metachromatic leukodystrophy developed by Orchard Therapeutics.It contains an autologous CD34⁺ cell enriched population that contains haematopoietic stem and progenitor cells transduced using a lentiviral vector encoding the human arylsulfatase A (ARSA) gene.
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11883 Ensembl ENSG00000100299 ENSMUSG00000022620 UniProt P15289 P50428 RefSeq (mRNA) NM_000487 NM_001085425 NM_001085426 NM_001085427 NM_001085428 NM_001362782 NM_009713 RefSeq (protein) NP_000478 NP_001078894 NP_001078895 NP_001078896 NP_001078897 NP_001349711 NP_033843 Location (UCSC) Chr 22: 50.62 – 50.63 Mb Chr 15: 89.36 – 89.36 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse ...