Glycogen storage disease type III historical perspective
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Anmol Pitliya, M.B.B.S. M.D.[2]
Overview
In 1928, van Creveld first described a case of a 7-year-old boy presented with a marked hepatomegaly, obesity and small genitalia. In 1956, B Illingworth, GT Cori, and CF Cori confirmed that glycogen storage disease type 3 is due to deficiency of amylo-1, 6-glucosidase (glycogen debranching enzyme).
Historical Perspective
Discovery
- In 1928, van Creveld first described a case of a 7-year-old boy presented with a marked hepatomegaly, obesity and small genitalia. He termed it as "an unusual disturbance of carbohydrate metabolism in childhood". This was later proved to be glycogen storage disease type 3. [1]
- In 1952, Barbara Illingworth and Gerty Cori predicted deficiency of glycogen debranching enzyme in follow-up patients of Gilbert Forbes. These patients had excessive storage of abnormal glycogen in liver and muscle.[2]
- In 1956, B Illingworth, GT Cori, and CF Cori confirmed that glycogen storage disease type 3 is due to deficiency of amylo-1, 6-glucosidase (glycogen debranching enzyme).[3]
References
- ↑ Fernandes J (1995). "The history of the glycogen storage diseases". Eur J Pediatr. 154 (6): 423–4. PMID 7671937.
- ↑ ILLINGWORTH B, CORI GT (1952). "Structure of glycogens and amylopectins. III. Normal and abnormal human glycogen". J Biol Chem. 199 (2): 653–60. PMID 13022672.
- ↑ ILLINGWORTH B, CORI GT, CORI CF (1956). "Amylo-1, 6-glucosidase in muscle tissue in generalized glycogen storage disease". J Biol Chem. 218 (1): 123–9. PMID 13278321.