The clinical and genetic Spectrum of Maroteaux-Lamy syndrome (Mucopolysaccharidosis VI) in the Eastern Province of Saudi Arabia

• Published in: Journal of community genetics Vol. 9; no. 1; pp. 65 - 70
• Main Authors: Al-Sannaa, Nouriya Abbas, Al-Abdulwahed, Hind Yousif, Al-Majed, Sami Ibrahim, Bouholaigah, Issam Hassan
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Springer Berlin Heidelberg 01.01.2018; Springer Nature B.V
• Subjects: Arylsulfatase; Biomedical and Life Sciences; Biomedicine; Epidemiology; Gene Function; Gene Therapy; Genotype & phenotype; Genotypes; Glycosaminoglycans; Human Genetics; Maroteaux-Lamy syndrome; Medical screening; Mucopolysaccharidosis; Mutation; N-Acetylgalactosamine; Original; Original Article; Public Health; arsB Gene; Unrelated Consanguineous Families; First-cousin Parents; Maroteaux-Lamy Syndrome; Autosomal Recessive Lysosomal Storage Disease

Mucopolysaccharidosis (MPS VI) or Maroteaux-Lamy syndrome is an autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N -acetylgalactosamine 4-sulfatase or arylsulfatase B. It is involved in the degradation of glycosaminoglycans and characterized by a wide spectrum of clin...