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 (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 ...

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).

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.

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.

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.

MPS VI (Maroteaux-Lamy syndrome) is caused by a recessive gene. There is a one in four chance with every pregnancy that the child will inherit the defective gene from each carrier parent and will be affected with the disease.

Although each mucopolysaccharidosis (MPS) differs clinically, most patients generally experience a period of normal development followed by a decline in physical and/or mental function. …

Mucopolysaccharidosis (MPS) VI or Maroteaux-Lamy syndrome (253200) is an autosomal recessive lysosomal storage disorder caused by deficiency in N -acetylgalactosamine-4-sulfatase (arylsulfatase B).

Jan 12, 2022 · What is MPS Disease? MPS stands for mucopolysaccharidoses, which is a group of inherited lysosomal storage disorder. Lysosome plays an important role in the cell as it acts as the primary digestive unit. The enzymes in the lysosomes digest carbs, fats, and other nutrients.