A novel homozygous missense variant in ARSK causes MPS X,a new subtype of mucopolysaccharidosis  

作　　者：Miao Sun Cornelia K.Kaminsky Philip Deppe Mai-Brittllse Frederic M.Vaz Barbara Plecko Torben Lubke Linda M.Randolph 

机构地区：[1]Division of Genomic Medicine,Department of Pathology and Laboratory Medicine,Children's Hospital Los Angeles/Keck School of Medicine of USC,Los Angeles,CA 90027,USA [2]Department of Radiology,Children's Hospital Los Angeles/Keck School of Medicine of USC,Los Angeles,CA 90027,USA [3]Department of Chemistry,Biochemistry,Bielefeld University,Bielefeld 33615,Germany [4]Amsterdam UMC Location University of Amsterdam,Department of Clinical Chemistry and Pediatrics,Laboratory Genetic Metabolic Diseases,Emma Children's Hospital,Meibergdreef 9,Amsterdam 1100 DE,the Netherlands [5]Amsterdam Gastroenterology Endocrinology Metabolism,Inborn Errors of Metabolism,Amsterdam 1105 BK,the Netherlands [6]Core Facility Metabolomics,Amsterdam UMC Location University of Amsterdam,Amsterdam 1100DD,the Netherlands [7]Department of Pediatrics,Division of General Pediatrics,Medical Universityof Graz,Graz8036,Austria [8]Division of Medical Genetics,Department of Pediatrics,Children's Hospital Los Angeles/Keck School of Medicine of USC,Los Angeles,CA 90027,USA

出　　处：《Genes & Diseases》2024年第3期87-90,共4页基因与疾病（英文）

摘　　要：Mucopolysaccharidoses(MPS)are a group of rare inborn errors of metabolism caused by defective lysosomal enzymes which prevent cells from degrading and recycling certain carbohydrates and fats,resulting in the storage of glycosaminoglycans in cells throughout the body.This leads to multisystem abnormalities involving bone,connective tissues,brain,blood,spinal cord,skin,and other tissues.

关 键 词：metabolism doses polys 

分 类 号：R589[医药卫生—内分泌]