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
Catalogue details

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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    58 ORGANIC ACIDURIAS BLOOD GLUCOSE mg/IOOml 1601 120- 80- 40- GLYCOGEN SYNTHETASE DEFICIENCY NORMAL CHILDREN UT-J Г M GALACTOSE —r~ 60 —I— 120 180 TIME (min) Fig. 3. The range of blood glucose concentrations following galac¬ tose in normal children and children with glycogen synthetase deficiency. Storage disease reported by Spencer-Peet et al. (1971), while giving patterns typical of a particular enzyme defect, were found to have normal amounts of this enzyme when the latter was assayed in a liver biopsy. Hence, certainty of diagnosis must still depend on the satisfactory demon¬ stration of an enzyme deficiency in such material. None the less, results from these simple tests with galactose, glucose and glucagon will continue to give valuable information in the early stages of investigation and diagnosis of inborn errors of hepatic glycogen metabolism. Another approach to this problem of definitive diagnosis is the esti¬ mation of glycogen synthetase concentrations in red or white blood cells. Normal quantities of this enzyme were found in the former cells by Spencer-Peet (1964). Preliminary assays on white blood cells have yielded conñicting results (Toothill & Ridley, 1971). Another question to be asked is whether this family is unique in the world literature. One other case described by Parr et al. (1965) died within a few months of birth, had hepatomegaly and complete absence of