What causes Maroteaux-Lamy syndrome?

What causes Maroteaux-Lamy syndrome?

Maroteaux-Lamy syndrome occurs due to mutations in the ARSB gene and is inherited as an autosomal recessive disorder. The mucopolysaccharidoses (MPS) are a group of inherited lysosomal storage disorders. More than 60 lysosomal storage disorders have been identified so far.

What is Lamy disease?

Reduced life expectancy. Maroteaux–Lamy syndrome, or Mucopolysaccharidosis Type VI (MPS-VI), is an inherited disease caused by a deficiency in the enzyme arylsulfatase B (ARSB). ASRB is responsible for the breakdown of large sugar molecules called glycosaminoglycans (GAGs, also known as mucopolysaccharides).

What is Scheie syndrome?

Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development. Epidemiology. Prevalence is estimated at 1/500,000.

What are the different mucopolysaccharidoses?

Mucopolysaccharidosis type I (MPS I) is a condition that affects many parts of the body. This disorder was once divided into three separate syndromes: Hurler syndrome (MPS I-H), Hurler-Scheie syndrome (MPS I-H/S), and Scheie syndrome (MPS I-S), listed from most to least severe.

Where does Mucopolysaccharide come from?

Mucopolysaccharides are long chains of sugar molecules that are found throughout the body, often in mucus and in fluid around the joints. They are more commonly called glycosaminoglycans.

What is MPS IVA?

MPS IVA is an autosomal recessive genetic disorder caused by deficiency of the GALNS enzyme due to mutations in the GALNS gene. MPS IVB is an autosomal recessive genetic disorder caused by deficiency of the beta-galactosidase enzyme due to mutations in the GLB1 gene.

Is MPS fatal?

In the most severe cases of MPS I, death usually occurs by age 10 although some patients may have a normal life span. Clinical symptoms are heterogeneous and are progressively limiting in nature. A few examples of disease progression include: Cardiovascular disease is common in patients with MPS I.

What is Morquio syndrome Type B?

Abstract. Morquio B disease (MBD) is an autosomal recessive GLB1-gene-related lysosomal storage disease, presenting with a peculiar type of dysostosis multiplex which is also observed in GALNS-related Morquio A disease.