Description: Segment 1 Dr Whiteman introduces the topic, explains what mucopolysaccharidoses are and says that the lecture will discuss aspects of clinical and laboratory diagnosis as well as pathogenesis, aspects of management and possible future trends. Next, Dr Rosemary Stephens talks about the clinical manifestations of these disorders. Dr Stephens describes the symptoms and a table lists the types of disorders (Hurler's disease, Scheie's disease, Hurler/Scheie compound and Hunter's disease types A & B). Stephens explains how the diseases are inherited and talks about the cause of Hurler's disease - an enzyme deficiency. Photographs of a two-year-old boy with Hurler's disease are seen, and she points out the characteristic features. Time start: 00:00:00:00 Time end: 00:05:21:00 Length: 00:05:21:00 Segment 2 Stephens continues to talk about the physical problems related to Hurler's disease, including deafness and cardiac lesions. Next, she discusses Scheie's disease, explaining the enzyme deficiency, symptoms and physical characteristics. She also does this for Hurler-Scheie compound and Hunter's disease. Time start: 00:05:21:00 Time end: 00:09:52:00 Length: 00:04:31:00 Segment 3 Stephens continues to explain Hunter's disease, showing photographs of patients. She next explains Sanfilippo's disease (types A and B). Photographs of children with the disease are shown. She goes on to address Morquio's disease, with photographs again being shown. Time start: 00:09:52:00 Time end: 00:15:01:00 Length: 00:05:09:00 Segment 4 Stephens continues to explain Morquio's disease, going on to describe Maroteaux-Lamy's disease. Photographs of children with the disease are seen, and she describes the physical characteristics and complications. Next, she deals with mucopolysaccharidosis type VII. She then introduces Dr Sutcliffe, who talks about the x-ray changes in these diseases. He shows an x-ray of a skull from a patient with classical Hurler's disease MPS 1H and describes it. Another view of the skull is seen, as well as one of the spine, ribs, coccyx and hands. Time start: 00:15:01:00 Time end: 00:20:18:00 Length: 00:05:17:00 Segment 6 Sutcliffe continues to show x-rays. Next, a patient with MPS 6: pelvis and jaw. He then introduces Dr Brian Lake, who talks on the examination of the blood films and their part in the diagnosis of these diseases. Lake explains how Alder granules can be demonstrated in blood films by staining in a haematology laboratory. Slides of the results of staining are seen and Lake indicates interesting areas on the slides. Time start: 00:24:48:10 Time end: 00:30:15:00 Length: 00:05:26:15. Segment 7 Lake then explains how to stain blood films to look for metachromasia, and slides are seen here also. Lake hands back to Dr Whiteman, who talks about studies of urinary glycosaminoglycans and their part in diagnosis. Graphs of concentrations of glycosaminoglycans in patients are seen. Whiteman also comments on the glycosaminioglycans to creatine ratio. He explains that qualitative analysis of urinary glycosaminoglycans is useful for confirming a diagnosis of mucopolysaccharidosis and differentiating the various forms. Time start: 00:30:15:00 Time end: 00:34:52:23 Length: 00:04:37:23. Segment 8 Whiteman describes a method of electrophoresis to separate individual urinary glycosaminoglycan components. A photograph shows typical patterns obtained in different types of mucopolysaccharidoses. He compares the various types of disease and graphs show heparan and dermatan sulphate excretion in patients. Whiteman ends the lecture by saying that by following the guidelines laid out in the programme, an accurate diagnosis can usually be made. Time start: 00:34:52:23 Time end: 00:39:17:21 Length: 00:04:24:23