Pycnodysostosis is a rare clinical entity, first described in 1962 by Maroteaux and Lamy. The disease has also been named Toulouse-Lautrec syndrome, after the French artist Henri de Toulouse-Lautrec, who (it has been surmised) suffered from the disease. In 1996, the defective gene responsible for Pycnodysostosis was located, offering accurate diagnosis, carrier testing and a more thorough under...

Mucopolysaccharidosis is a lysosomal storage disorder, caused due to deficiency of enzymes required for the breakdown Mucopolysaccharides. These undegraded Mucopolysaccharides accumulate in various tissues and cause characteristic features like neurological deficit, impaired motor function, developmental delay, hearing loss, behavioral problems, corneal clouding, glaucoma, respiratory distress,...

In continued efforts to develop enzymatic assays for lysosomal storage diseases appropriate for newborn screening laboratories we have synthesized novel and specific enzyme substrates for Maroteaux-Lamy (MPS VI) and Morquio A (MPS IVA) diseases. The sulfated monosaccharide derivatives were found to be converted to product by the respective enzyme in blood from healthy patients but not by blood ...

PYCNODYSOSTOSIS is a rare disease. Only thirty-three cases have appeared in the literature since 1923. The term pycnodysostosis (from the Greek pycnos I =dense, dus=defective and stosis=of bone) was tS U i{: ' ..........; coined by Maroteaux & Lamy in 1962 for an apparent j clinical entity which included micromelic dwarfism, increased radiological density of bone, dysplasia of the skull, atroph...

True achondroplasia is a well-delineated and distinct entity as familiar to the layman as it is to the members of the medical profession (Maroteaux and Lamy, 1964). In the past the designation was often assigned to a hotchpotch of entities such as Morquio's disease and spondylo-epiphysial dysplasia (McKusick, 1966; Maroteaux and Lamy, 1959; Jacobsen, 1939). It is considered to be due in all ins...

Mucopolysaccharidosis VI (MPS VI), or Maroteaux-Lamy syndrome, is an autosomal recessive lysosomal storage disorder caused by deficient activity of the enzyme arylsulfatase B (ASB). Progressive accumulation of glycosaminoglycans (GAGs) in organs and tissues leads to the development of multisystem clinical manifestations. The presentation of MPS VI is genotypically and phenotypically diverse, wi...