Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 tollfree. The most important neuroradiological features include abnormal signal intensity in the white matter, dilatation of periventricular spaces, widening of cortical sulci, brain atrophy, enlargement of extraventricular spaces and spinal cord compression. Individuals with mucopolysaccharidosis either do not produce enough of one of the eleven enzymes required to break down these sugar chains into simpler molecules, or they produce enzymes that do not work properly. All structured data from the file and property namespaces is available under the creative commons cc0 license. Mps is named after mucopolysaccharides sugars bound to proteins, which are not broken down correctly in these diseases, causing the products of incomplete metabolism to accumulate in the body. Pdf the mucopolysaccharidoses mps are a group of rare. Chromosome studies showed partial deletion of the long arm of one x chromosome. Mucopolysaccharidosis type vi is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase b. Recognition and diagnosis of mucopolysaccharidosis ii hunter syndrome. Mucopolisacaridosis y oligosacaridosis sciencedirect. Harold adrian russell kim philby 1 january 1912 11 may mucopolisacaridosis tipo iv pdf 1988 was a.
This publication provides an overview of the mucopolysaccharidoses, including common symptoms, diagnosis, and available therapies. Morquio a mps iva is a rare disease characterised by a deficiency of nacetylgalactosamine 6 sulfatase galns and presenting with short stature, abnormal gait, cervical spine instability and shortened lifespan. This disorder was once divided into three separate syndromes. Of all soviet spies during the cold war, harold kim. Clinical features and severity are variable, but usually include short stature, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal. Files are available under licenses specified on their description page. Mucopolysaccharidosis type vi mps vi, also known as maroteauxlamy syndrome, is a progressive condition that causes many tissues and organs to enlarge and become inflamed or scarred. Also discussed is nindsfunded research to increase scientific understanding of the mucopolysaccharidoses. In his posthumous article philbys spurious war in volume 9, number. Mucopolysaccharidosis mps is a group of rare, hereditary and incurable storage diseases. Mps iv morquio syndrome, and mps vi maroteauxlamy syndrome.
For language access assistance, contact the ncats public information officer. If you have problems viewing pdf files, download the latest version of adobe reader. Hurler syndrome mps ih, hurlerscheie syndrome mps ihs, and scheie syndrome mps is, listed from most to least severe. Caracteristicas clinicas y cefalometricas en personas con. Radiological and neuroradiological findings are reported. Please use one of the following formats to cite this article in your essay, paper or report. The disorder is expected to be found only in males, but some females have been reported. The result is permanent, progressive cellular damage which. Mucopolysaccharidosis type i genetics home reference nih. Mucopolysaccharidosis type i mps i is a condition that affects many parts of the body. The following 3 files are in this category, out of 3 total. Over time, these gags collect in the cells, blood and connective tissues.