
Mucopolysaccharidosis type VI: MedlinePlus Genetics
Mucopolysaccharidosis type VI (MPS VI), also known as Maroteaux-Lamy syndrome, is a progressive condition that causes many tissues and organs to enlarge, become inflamed or scarred, and eventually waste away (atrophy). Explore symptoms, inheritance, genetics of …
Mucopolysaccharidosis Type VI, an Updated Overview of the …
Mucopolysaccharidosis type VI (MPS VI), or Maroteaux–Lamy syndrome (MIM# 253200), is a rare, inherited, autosomal recessive metabolic disorder caused by low to absent activity of the lysosomal enzyme N-acetylgalactosamine 4-sulfatase (arylsulfatase B; ASB; EC 3.1.6.12) that catalyzes one of the steps of degradation of the glycosaminoglycans ...
Mucopolysaccharidosis type 6 | About the Disease | GARD
Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate.
Mucopolysarcharidosis Type VI (MPS VI) - Boston Children's Hospital
Mucopolysarcharidosis type VI (MPS VI) is a rare, inherited disorder that is classified as a lysosomal storage disorder (LSD) in which a genetic variation disrupts the normal activity of lysosomes in human cells. MPS VI also known as Maroteaux-Lamay syndrome. What are lysosomes and what do they do?
Maroteaux–Lamy syndrome - Wikipedia
Maroteaux–Lamy syndrome, or Mucopolysaccharidosis Type VI (MPS-VI), is an inherited disease caused by a deficiency in the enzyme arylsulfatase B (ARSB). [3] ASRB is responsible for the breakdown of large sugar molecules called glycosaminoglycans (GAGs, also known as mucopolysaccharides).
MPS VI - National MPS Society
MPS IV is a mucopolysaccharide disease known as Maroteaux-Lamy Syndrome. It takes its name from two French Doctors, Dr. Maroteaux and Dr. Lamy, who first described the condition in 1963. MPS VI has a wide range of symptoms that vary in severity and can be managed and treated with enzyme replacement therapies. There is no cure for MPS VI.
Mucopolysaccharidosis VI (MPS VI; pronounced “mew·ko·pol·ee·sak·ah·ri·doh·sis six”) is a very rare genetic disorder characterized by a large head, distinctive “coarse” features, and a large tongue.
MPS VI Maroteaux Lamy
What is MPS VI? MPS VI, known as Maroteaux-Lamy disease, is one of the mucopolysaccharide storage diseases. MPS VI was first identified by Dr Maroteaux and Dr Lamy in 1963. Mucopolysaccharides are long chains of sugar molecules used in the building of bones, cartilage, skin, tendons and many other tissues in the body.
Mucopolysaccharidosis VI - PMC
Mucopolysaccharidosis VI (MPS VI) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B leading to the accumulation of dermatan sulfate. Birth prevalence is between 1 in 43,261 and 1 in 1,505,160 live births.
Orphanet: Mucopolysaccharidosis type 6
Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate. Birth prevalence is between 1 in …