Description: Segment 1 Opening titles. Dr Leaback briefly summarises Part 1 of the programme and says that Part 2 will deal with treatments. He introduces Dr Michael Dean, who talks about his experiments in enzyme therapy. Dr Dean explains the catabolism of mucopolysaccharides, or glychosaminoglycans as they are also called. If an enzyme is deficient then problems occur. A diagram of a portion of a heparan sulphate molecule is seen, and Dean explains how deficiencies of an enzyme in it leads to Hunter syndrome. Another type of deficiency leads to Hurler or Scheie syndrome. Time start: 00:00:00:00 Time end: 00:05:45:22 Length: 00:05:45:22 Segment 2 Dean explains that to alleviate the symptoms of mucopolysaccharidosis, partially degraded glycosaminoglycan fragments must be removed. The deficient enzyme must be supplemented. A diagram showing fibroblasts grown from normal skin is seen. These were able to correct the deficiency when grown together in vitro. Dean summarises previous attempts at enzyme replacement therapy. A table showing beneficial effects of plasma infusion therapy in a group of Sanfilippo and Hunter patients is seen. These benefits were only temporary. Dean describes some other enzyme replacement therapies, including targeting the patient's liver and implanting normal fibroblasts into the patient. Time start: 00:05:45:22 Time end: 00:11:04:07 Length: 00:05:18:10 Segment 3 Dean discusses a case where normal fibroblasts were implanted into the patient. The patient was a boy with Hunter syndrome. A diagram showing skin grafts from the boy's parents' arms to his arm is seen. Dean describes the rest of the therapy. Graphs showing the changes in excretion of uronic acid and other changes are seen. Dean explains the data in the graphs. Time start: 00:11:04:07 Time end: 00:15:15:00 Length: 00:04:10:18 Segment 4 Dean continues to discuss the case study. The deficient enzyme was looked for in the patient's urine. A graph showing the excretion of the enzyme is seen. A second patient with Hunter syndrome is given the same fibroblast treatment and observed. Graphs showing the results of the treatment are seen, and Dean explains the data. Dean then summarises the two case studies and says that he feels fibroblast implantation therapy offers some possibility for long-term replacement therapy. Time start: 00:15:15:00 Time end: 00:22:42:00 Length: 00:07:27:00 Segment 6 Dr Paul Whiteman is introduced, who discusses prenatal diagnosis. He explains what tests should be carried out on the pregnant mother's amniotic fluid, including biochemical studies and analysis of amniotic fluid glycosaminoglycans. He then discusses future developments of methods involving the demonstration of specific enzyme deficiencies in cultured amniotic fluid cells. He also explains the disadvantages associated with methods based on cell cultures. Time start: 00:26:15:13 Time end: 00:30:05:22 Length: 00:03:50:09. Segment 7 Whiteman describes microtechniques required for the isolation and analysis of glycosaminoiglycans in amniotic fluid. He describes two methods: the measurement of a portion of hyaluronidase-resistant glycosaminoglycans and the separation of individual glycosaminoglycan components by w-dimensional electrophoresis. An electrophoretogram is seen, showing typical separations of amniotic fluid glycosaminoglycans in a pregnancy affected by Hurler disease. Time start: 00:30:05:22 Time end: 00:35:00:05 Length: 00:04:54:08. Segment 8 Another electrophoretogram is seen, showing a pregnancy affected by Sanfilippo A disease. Whiteman advises that these techniques are used in conjunction with studies on cultured amniotic fluid cells. Whiteman hands back to Dr Leaback, who discusses the social, medical and scientific reasons for particular interest in this kind of disorder. He says that between 2000 and 3000 individuals are affected by mucopolysaccharidoses in Britain and talks about support for families and pregnant women. He then summarises the biochemical and metabolic aspects of the programme. He finishes the programme by saying that much remainds to be done on mucopolysaccharidosis syndromes, although a start has been made. Time start: 00:35:00:05 Time end: 00:42:50:17 Length: 00:07:50:12