All structured data from the file and property namespaces is available under the creative commons cc0 license. A collection of disease information resources and questions answered by our genetic and rare diseases information specialists for hurlerscheie syndrome. The same is true for most diseases of genetic origin in which one observes the transmission of only a few clinical signs. Hurlerscheie syndrome is the intermediate form of mucopolysaccharidosis type 1 mps1. En cualquier momento esta dispuesto a recoger sus canicas e irse a casa. It is not necessary to find the complete clinical picture, as described by others, to reach the diagnosis. Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 mps1. Luis francisco pineda galindo at mexican institute of social security. Scheie syndrome genetic and rare diseases information. The care toward a young child with this disorder is indispensable to achieve a childhood with life quality. Mucopolysaccharidosis type i mps i is the prototype lysosomal storage disease.
Link to the french ministry of health link to cee website. It is characterized by a deficiency of the enzyme aliduroni dase, resulting in. The diagnosis is based on a certain number of clinical features. Pdf mucopolysaccharidosis type i hurlerscheie syndrome.