Normal MPS excretion, but dermatan sulphaturia, combined with a mild Maroteaux-Lamy phenotype.
نویسندگان
چکیده
A mildly affected Maroteaux-Lamy patient is described. Electrophoretic separation of acid mucopolysaccharides (MPS) in the urine showed an increased excretion of dermatan sulphate in spite of a normal total excretion of MPS.
منابع مشابه
Mutational analysis of ARSB gene in mucopolysaccharidosis type VI: identification of three novel mutations in Iranian patients
Objective(s): Mucopolysaccharidosis VI (MPS VI) or Maroteaux-Lamy syndrome is a rare metabolic disorder, resulting from the deficient activity of the lysosomal enzyme arylsulfatase B (ARSB). The enzymatic defect of ARSB leads to progressive lysosomal storage disorder and accumulation of glycosaminoglycan (GAG) dermatan sulfate (DS), which causes harmful effects on various organs and tissues an...
متن کاملSensory-motor behavioral characterization of an animal model of Maroteaux-Lamy syndrome (or Mucopolysaccharidosis VI)
Maroteaux-Lamy disease, also known as mucopolysaccharidosis (MPS) VI, is an MPS disorder caused by mutations in the ARSB gene encoding for the lysosomal enzyme arysulfatase B (ARSB). Deficient ARSB activity leads to lysosomal accumulation of dermatan sulfate in a wide range of tissues and organs. There are various animal models of MPS VI that have been well characterized from a biochemical and ...
متن کاملMolecular findings of Colombian patients with type VI mucopolysaccharidosis (Maroteaux–Lamy syndrome)
INTRODUCTION Maroteaux-Lamy syndrome, or mucopolysaccharidosis (MPS) type VI, is an autosomal recessive lysosomal storage disease caused by a deficient activity of the enzyme arylsulfatase B (ARSB), required to degrade dermatan sulfate. The onset and progression of the disease vary, producing a spectrum of clinical presentation. So far, 133 mutations have been reported. The aim of this study is...
متن کاملDevelopment of a fluorometric microtiter plate-based enzyme assay for arylsulfatase B (MPS VI) using dried blood spots
Mucopolysaccharidosis type VI or Maroteaux-Lamy syndrome is an autosomal recessive lysosomal storage disorder caused by deficiency of arylsulfatase B (ARS-B) enzyme activity. It results in mild to severe multi-organ system failure from accumulation of undigested glycosaminoglycans (GAGs); dermatan sulfate and chondroitin-4-sulfate. We have developed a single-step enzyme assay using a fluorescen...
متن کاملAnesthesia in a child with Maroteaux-Lamy syndrome undergoing mitral valve replacement
Mucopolysaccharidoses (MPSs) are a group of metabolic diseases transmitted in an autosomal recessive fashion. MPSs are due to deficiencies of the specific enzymes responsible for the catabolism of dermatan sulfate, heparin sulfate, and keratan sulfate, resulting in the accumulation of glycosaminoglycans (GAGs). MPSs have a chronic, progressive course with multisystemic involvement. The incidenc...
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عنوان ژورنال:
- Journal of medical genetics
دوره 28 7 شماره
صفحات -
تاریخ انتشار 1991