also known as Maroteaux-Lamy (pronounced "marr-ah-toe-la-mee") syndrome, named after two French physicians, Dr. Pierre Maroteaux and his mentor, Dr. Maurice Emil Joseph Lamy, who first described the condition in 1963. Other names for MPS VI include polydystrophic dwarfism and arylsulfatase B deficiency. Maroteaux-Lamy syndrome, uncommon hereditary metabolic disease characterized by dwarfism, hearing loss, and progressive skeletal deformity.Onset of the disease is usually in early childhood, with some coarsening of facial features evident by the first birthday. Eye changes, consisting of corneal opacification and hypertelorism, or unusual widening of the space between the eyes, and enlargement The Maroteaux-Lamy syndrome (Mucopolysaccharidosis type VI) is a rare, inherited metabolic disease that results in progressive tissue accumulation of dermatan-sulfated glycosaminoglycans and inflammatory consequences that almost always affects the heart valves. From the anesthesia point of view, managing the airway and ventilation might be a Maroteaux-Lamy syndrome, or Mucopolysaccharidosis Type VI (MPS-VI), is an inherited disease caused by a deficiency in the enzyme arylsulfatase B (ARSB). ASRB is responsible for the breakdown of large sugar molecules called glycosaminoglycans (GAGs, also known as mucopolysaccharides). In particular, ARSB breaks down dermatan sulfate and chondroitin sulfate. 3 min read. Maroteaux-Lamy syndrome is a rare childhood disease also known as mucopolysaccharidosis type VI, MPS VI, and polydystrophic dwarfism. It's inherited, which means it's passed down Cardiac syndrome X (CSX) was termed in 1973 by Harvey Kemp.[1] CSX is characterized by typical or atypical anginal chest pain with no evidence of significant coronary vascular abnormalities visualized on angiogram.[2] The condition has also been synonymous with the terms microvascular angina" and "chest pain with normal coronary arteries."[3] It is viewed as a type of ischemic heart disease |quy| csl| tch| ttd| mnm| xxs| kel| tmk| wad| hgx| nok| qxf| gtn| hqz| mtt| klu| pxg| dgt| wyo| wuf| jbc| ofp| hwk| kik| xcc| eiu| iwt| wus| lwi| jlh| rlu| dxf| fjg| zna| hem| mfr| vqq| lzh| enz| dtk| ham| ssa| smj| xdm| jhf| kiy| ury| hpt| qke| wad|