Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) in the pre-Columbian culture of Colombia
نویسندگان
چکیده
Mucopolysaccharidosis type VI or Maroteaux Lamy syndrome is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B, the clinical features include short stature, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, cardiac abnormalities, and facial dysmorphism, with intelligence usually normal. We present evidence of the possible existence of Maroteaux Lamy syndrome in pre-Columbian pottery 2000 years ago, in the Colombo-Ecuadorian Pacific coast of the Tumaco-Tolita culture.
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 کاملبررسی یک مورد Mucopolysaccharidosis از نوع Maroteaux-Lamy
Mucopolysaccharidosis type maroteaux-lamy is a very rare hereditary disease. The disease is marked by the deficiency of the lysosomal enzyme N-Acetyl galactosamine-a-4-sulfate sulfatase (arylsulfatase B). It is inherited as an autosomal recessive trait. The most clinical manifestations are: corneal clouding, organomegaly, hernias, coarse facial features, cardiac insufficiency and skeletal abn...
متن کاملPrenatal diagnosis of Maroteaux-Lamy syndrome.
Maroteaux-Lamy syndrome exhibits deficient activity of the enzyme arylsulfatase-B in cultured skin fibroblasts. Prenatal diagnosis was successfully attempted in two pregnancies of a consanguineous Chaldean couple whose first child is affected with Maroteaux-Lamy syndrome. In both instances, deficient arylsulfatase-B activity was observed in amniotic fluid cell cultures, and the diagnosis was co...
متن کاملThe oral and maxillofacial manifestation and surgical consideration in Maroteaux Lamy syndrome (mucopolysaccharidosis VI): A case report
The role of the genetic disorders in maxillofacial manifestations is well documented. Maroteaux Lamy syndrome (mucopolysaccharidosis VI) is a metabolic and chromosomal abnormality which involving disturbances in mucopolysaccharide metabolism and storage of acid mucopolysaccharide in various tissues. The main factor for Maroteaux Lamy syndrome is defi ciency of arylsulfatase B. Deposition of muc...
متن کاملDRUG PROFILE Galsulfase: enzyme-replacement therapy for mucopolysaccharidosis Type VI (Maroteaux–Lamy syndrome)
10.1586/14750708.3.1.9 © 200 Since enzyme-replacement therapy has been successfully introduced for patients with Gaucher disease, Fabry disease and mucopolysaccharidosis Type I, the principle of this treatment has also been taken into consideration for individuals who are affected by mucopolysaccharidosis Type VI (Maroteaux–Lamy disease), a rare lysosomal storage disorder with multiple organ an...
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عنوان ژورنال:
دوره 45 شماره
صفحات -
تاریخ انتشار 2014