title: Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) in the pre-Columbian culture of Colombia.
abstract: 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.
authors.affiliation: Centro de Investigaciones en Anomalías Congénitas y Enfermedades Raras. Universidad Icesi, Cali, Colombia.
authors.forename: Harry
authors.initials: H
authors.lastname: Pachajoa
authors.affiliation: Profesor Titular, Facultad de Salud, Universidad del Valle, Cali, Colombia.
authors.forename: Carlos Armando
authors.initials: CA
authors.lastname: Rodriguez
mesh_terms: D002516:Ceramics / Q000266:history*; D003105:Colombia; D049690:History, Ancient; D006801:Humans; D009087:Mucopolysaccharidosis VI / Q000266:history* / Q000503:physiopathology
keywords: Mucopolysaccharidosis VI; history of medicine; inborn genetic diseases; mucopolysaccharidoses; paleopathology
references.citation: Am J Med Genet A. 2003 Dec 15;123A(3):310-3
references.pmid: 14608657
references.citation: Clin Genet. 2004 Sep;66(3):208-13
references.pmid: 15324318
references.citation: Neurologia. 2013 Jan-Feb;28(1):62
references.pmid: 21798633
references.citation: Colomb Med (Cali). 2012 Sep 30;43(3):212-5
references.pmid: 24893194
references.citation: Am J Med Genet A. 2011 Sep;155A(9):2327-8
references.pmid: 21815245
references.citation: Presse Med. 1963 Sep 25;71:1849-52
references.pmid: 14091597
references.citation: J Med Ethics. 2012 Nov;38(11):699-700
references.pmid: 22550061