Glycogen storage disease type III historical perspective: Difference between revisions
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==Overview== | ==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). | 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== | ==Historical Perspective== | ||
===Discovery=== | ===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. <ref name="pmid7671937">{{cite journal| author=Fernandes J| title=The history of the glycogen storage diseases. | journal=Eur J Pediatr | year= 1995 | volume= 154 | issue= 6 | pages= 423-4 | pmid=7671937 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7671937 }} </ref> | *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. <ref name="pmid7671937">{{cite journal| author=Fernandes J| title=The history of the glycogen storage diseases. | journal=Eur J Pediatr | year= 1995 | volume= 154 | issue= 6 | pages= 423-4 | pmid=7671937 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7671937 }} </ref> | ||
*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.<ref name="pmid13022672">{{cite journal| author=ILLINGWORTH B, CORI GT| title=Structure of glycogens and amylopectins. III. Normal and abnormal human glycogen. | journal=J Biol Chem | year= 1952 | volume= 199 | issue= 2 | pages= 653-60 | pmid=13022672 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=13022672 }} </ref> | *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]].<ref name="pmid13022672">{{cite journal| author=ILLINGWORTH B, CORI GT| title=Structure of glycogens and amylopectins. III. Normal and abnormal human glycogen. | journal=J Biol Chem | year= 1952 | volume= 199 | issue= 2 | pages= 653-60 | pmid=13022672 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=13022672 }} </ref> | ||
*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).<ref name="pmid13278321">{{cite journal| author=ILLINGWORTH B, CORI GT, CORI CF| title=Amylo-1, 6-glucosidase in muscle tissue in generalized glycogen storage disease. | journal=J Biol Chem | year= 1956 | volume= 218 | issue= 1 | pages= 123-9 | pmid=13278321 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=13278321 }} </ref> | *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]]).<ref name="pmid13278321">{{cite journal| author=ILLINGWORTH B, CORI GT, CORI CF| title=Amylo-1, 6-glucosidase in muscle tissue in generalized glycogen storage disease. | journal=J Biol Chem | year= 1956 | volume= 218 | issue= 1 | pages= 123-9 | pmid=13278321 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=13278321 }} </ref> | ||
==References== | ==References== | ||
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[[Category: | |||
[[Category:Endocrinology]] | |||
[[Category:Hepatology]] | |||
[[Category:Gastroenterology]] | |||
[[Category:Pediatrics]] | |||
[[Category:Up-To-Date]] | |||
[[Category:Genetic disorders]] | |||
[[Category:Metabolic disorders]] |
Latest revision as of 15:08, 29 December 2017
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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.