Organic acidurias : proceedings of the ninth symposium of the Society for the Study of Inborn Errors of Metabolism / edited by J. Stern and C. Toothill.

  • Society for the Study of Inborn Errors of Metabolism.
Date:
1972
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Licence: Attribution-NonCommercial 4.0 International (CC BY-NC 4.0)

Credit: Organic acidurias : proceedings of the ninth symposium of the Society for the Study of Inborn Errors of Metabolism / edited by J. Stern and C. Toothill. Source: Wellcome Collection.

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    60 ORGANIC ACIDURIAS blood lactate concentrations after oral administration of glucose, and more particularly galactose, is a useful test in the differential diagnosis of hepatic glycogen synthetase deficiency. However, for definitive diagnosis of the condition a liver biopsy with assay of individual enzymes is still essential. REFERENCES Fernandes, J., HuiJiNG, F. & Van de Kamer, J. H. (1969) Arch. Dis. Childh, 44, 311. Lewis, G. M., Spencer-Peet, J. & Stewart, К. M. (1963) Arch. Dis. Childh., 38, 40. Spencer-Peet, J., Norman, M. E., Lake, В. D., McNamara, J. & Patrick, A. D. (1971) Quart. J. Med., 40, 95. Spencer-Peet, J. (1964) Clin. chim. Acta, 10,481. Parr, J., Teree, T. M. & Larner, J. (1965) Pediatrics, 35, 770. TooTfflLL, C. & Ridley, J. (1971) Personal communication. DISCUSSION (of the Paper by Dr Dykes) Harris (Sheffield). Was the catecholamine output measured? Dykes {Leeds). The urinary 24-hours catecholamine output was measured on several occasions, in each child and in each case the values were normal. Watts {Harrow). What was the activity of glycogen synthetase in leucocytes, fibroblasts or other tissues ? Dykes. There were normal concentrations of glycogen synthetase in erythrocytes (Spencer-Peet, 1964). The preliminary investigations of the level of the enzyme in leucocytes have given contradictory results (Toothill, 1971, personal communication). No other tissues have been looked at for enzyme assays. Sinclair {London). Was muscle glycogen looked at and were adrenaline tests done ? Dykes. Adrenaline tests were done on the twins in 1962 and theie was a satisfactory rise of blood sugar after administration subcutaneously of adrenalin following an overnight fast (case 1, 40 mg; case 2,50 mg). This was interpreted as being due to the breakdown of muscle glycogen but no direct measurements of muscle glycogen synthetase have ever been made. Since 1962 the glucagon test has been used as a more critical index of liver glycogen storage. Crawfurd {Leeds). Have you investigated the parents with a galactose load or other tests? Would you comment on the possibility that John and Catherine may be heterozygotes rather than homozygotes ? Dykes. The mother gave a normal glucose tolerance test. The father was investigated for glycosuria when 8 years of age and gave a lag type of