Maroteaux-Lamy syndrome exhibits deficient activity of the enzyme arylsulfatase-B in cultured skin fibroblasts. Prenatal diagnosis was successfully attempted in two pregnancies of a consanguineous Chaldean couple whose first child is affected with Maroteaux-Lamy syndrome. In both instances, deficient arylsulfatase-B activity was observed in amniotic fluid cell cultures, and the diagnosis was co...

A novel liquefying alpha-amylase (LAMY) was found in cultures of an alkaliphilic Bacillus isolate, KSM-1378. The specific activity of purified LAMY was approximately 5,000 U mg of protein-1, a value two- to fivefold greater between pH 5 and 10 than that of an industrial, thermostable Bacillus licheniformis enzyme. The enzyme had a pH optimum of 8.0 to 8.5 and displayed maximum activity at 55 de...

The role of the genetic disorders in maxillofacial manifestations is well documented. Maroteaux Lamy syndrome (mucopolysaccharidosis VI) is a metabolic and chromosomal abnormality which involving disturbances in mucopolysaccharide metabolism and storage of acid mucopolysaccharide in various tissues. The main factor for Maroteaux Lamy syndrome is defi ciency of arylsulfatase B. Deposition of muc...

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 exi...

The case is reported of a young woman with the Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI) who presented with rapidly progressive dyspnoea due to mitral stenosis. Mitral valve replacement was performed and the appearance of the valve was typical of mucopolysaccharide infiltration. Dyspnoea in patients with the Maroteaux-Lamy syndrome may be due primarily to cardiac valve involvement...

A recommendation of: Vercken Elodie, Groussier Géraldine, Lamy Laurent, Mailleret Ludovic The hidden side of the Allee effect: correlated demographic traits and extinction risk in experimental populations https://hal.archives-ouvertes.fr/hal-02570868

The first 2 reported cases of a mucopolysaccharidosis occurring in an Australian aboriginal family are presented. Though these children had the characteristic morphological features of the Hurler syndrome, enzyme assay of cultured fibroblasts showed normal levels of alpha-L-iduronidase and decreased activity of arylsulphatase B. Thus, they represented the Hurler syndrome clinically, while they...