Journal of Genetic Disorders & Genetic ReportsISSN: 2327-5790

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Acosta MA Author

Acosta@gmail.com

Subjects of specialization
Maroteaux-Lamy syndrome

Affiliation
Pathology Department, University of Santiago de Compostela School of Medicine, Galicia, Spain: R

Biography

Mr. Acosta MA, belongs to the department of Paediatrics, interest in the field of Maroteaux-Lamy syndrome; Mucopolysaccharidosis VI; Novel mutation; Ancestral allel, from University of Santiago de Compostela School of Medicine, Galicia, Spain: Rúa San Francisco s/n 15782, Spain

Publications

Research Article Subscription

Same Mutation in Two Patients with Mucopolysaccharidosis Type VI (Maroteaux-Lamy Syndrome) Coming from Different Municipalities in the Department of Cauca, Southwestern Colombia

Author(s):

Acosta MA, Lago RM, Barros F and Carracedo AM

Mucopolysaccharidosis type VI or Maroteaux-Lamy syndrome is a lysosomal disease caused by an enzymatic disorder of N-acetylgalactosamine-4-sulfatase o arylsulfatase B. The diagnosis has generally been accepted with an ASB enzyme activity of <10 % of the lower limit of normal values in cultured fibroblasts or isolated leukocytes in an accredited laboratory with the presence of clinical findings consistent with MPS VI disease. The objective of this study is to make the molecular genetic characterization of two patients coming from two municipalities in the eastern and central areas of the Department, respectively, identified as having the severe clinical form of MPS typ... view more»

DOI: 10.4172/2327-5790.1000146

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