The organic acidaemias.

London : University of London Audio-Visual Centre, 1973.

1 encoded moving image.

00:29:26

University of London

Restricted

In English

Presented by Dr David Gompertz, lecturer in Biochemistry at the Royal Postgraduate Medical School and Consultant in Biochemical Genetics to Hammersmith Hospital. Introduced by Dr Ian Gilliland. Made by University of London Audio-Visual Centre for British Postgraduate Medical Federation and produced by David Sharp.

This video is one of around 310 titles, originally broadcast on Channel 7 of the ILEA closed-circuit television network, given to Wellcome Trust from the University of London Audio-Visual Centre shortly after it closed in the late 1980s. Although some of these programmes might now seem rather out-dated, they probably represent the largest and most diversified body of medical video produced in any British university at this time, and give a comprehensive and fascinating view of the state of medical and surgical research and practice in the 1970s and 1980s, thus constituting a contemporary medical-historical archive of great interest. The lectures mostly take place in a small and intimate studio setting and are often face-to-face. The lecturers use a wide variety of resources to illustrate their points, including film clips, slides, graphs, animated diagrams, charts and tables as well as 3-dimensional models and display boards with movable pieces. Some of the lecturers are telegenic while some are clearly less comfortable about being recorded; all are experts in their field and show great enthusiasm to share both the latest research and the historical context of their specialist areas.

Segment 1 Dr Gilliland introduces Dr Gompertz and the topic of the organic acidaemias. Dr Gompertz explains what the organic acidaemias are - a second generation of inborn errors of amino acid metabolism. He also discusses the first generation of inborn errors of amino acid metabolism and the diseases associated with them. Charts show the degradation pathways of the three branched-chain amino acids leucine, isoleucine and valine and Gompertz talks about the metabolic reactions of these pathways and the organic acidaemias associated with them. Time start: 00:00:00:00 Time end: 00:05:02:00 Length: 00:05:02:00

Segment 2 Gompertz continues to talk about the leucine degradation pathway and episodes of acute acidosis associated with it. He describes various patient case studies who have presented with second generation inborn errors of amino acid metabolism. He uses charts to describe the three small molecular weight intermediates that finish the degradation pathways and the function of enzymes in the pathways. Time start: 00:05:02:00 Time end: 00:10:20:00 Length: 00:05:18:00

Segment 3 The inborn error of propionic acidaemia is discussed. Gompertz mentions a case study of two babies who had untreatable metabolic acidoses and died within two weeks. He then turns to discussing how the organic acidaemias present in patients, describing symptoms and types of disease. He shows photographs of two children who both developed diseases and talks about their cases. Time start: 00:10:20:00 Time end: 00:15:34:22 Length: 00:05:14:22

Segment 4 Gompertz summarises the three possible presentations of organic acidaemias and moves on to the treatment of these conditions. A chart shows the effects of treatment by peritoneal dialysis on a newborn. He also talks about treatment with massive doses of vitamin B12. Charts help explain how this treatment works. Time start: 00:15:34:22 Time end: 00:19:31:15 Length: 00:03:56:18

Segment 5 Gompertz continues to discuss vitamin-responsive organic acidaemias; there are two biotin responsive conditions. He describes two case studies at the Great Ormond Street Hospital who were treated with massive doses of biotin. Time start: 00:19:31:15 Time end: 00:24:25:00 Length: 00:04:53:10

Segment 6 Next, Gompertz talks about the inheritance of these conditions, saying that many are assumed to be autosomal recessive and that there is a high degree of consanguinity in these families. A family tree of a family with propionic acidaemia is seen. The family tree has two first cousin marriages. Gompertz also talks about the prognosis for children affected by these conditions and how the conditions affect their mental capabilities. He finishes the lecture by summarising the points made within it. Time start: 00:24:25:00 Time end: 00:29:26:24 Length: 00:05:01:24