Abstract
Glycogen storage diseases (GSDs) are autosomal recessive metabolic disorders resulting in storage of abnormal amounts and/or forms of glycogen. Von Gierke disease is a GSD caused by defective liver and kidney glucose-6-phosphatase activity and is named after the pathologist who first described excess glycogen storage in the liver. The disease-causing mutation(s) can be either in the gene coding for the liver glucose-6-phosphatase enzyme (G6PC) or in the gene coding for the endoplasmic reticulum substrate and/or product transport proteins of the glucose-6-phosphatase system. The two common forms of GSD1 are termed GSD1a and GSD1b, and are caused by deficiency in G6PC and the glucose-6-phosphate transporter (G6PT1), respectively. The disease is currently managed by nocturnal nasogastric infusion of glucose and/or cornstarch mixed into drinks during the day, but compliance is often low. Recent advances in the use of gene therapy in animal models of the disease provide hope for this approach in the treatment of human patients in the future.
| Original language | English |
|---|---|
| Title of host publication | Brenner's encyclopedia of genetics |
| Editors | Stanley Maloy, Kelly Hughes |
| Place of Publication | London |
| Publisher | Academic Press |
| Pages | 304-307 |
| Number of pages | 4 |
| Edition | 2 |
| ISBN (Electronic) | 9780080961569 |
| ISBN (Print) | 9780123749840 |
| DOIs | |
| Publication status | Published - 27 Feb 2013 |
| Externally published | Yes |
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Von Gierke Disease. / Bennett, K.; Burchell, A.
Brenner's encyclopedia of genetics. ed. / Stanley Maloy; Kelly Hughes. 2. ed. London : Academic Press, 2013. p. 304-307.Research output: Chapter in Book/Report/Conference proceeding › Chapter
TY - CHAP
T1 - Von Gierke Disease
AU - Bennett, K.
AU - Burchell, A.
PY - 2013/2/27
Y1 - 2013/2/27
N2 - Glycogen storage diseases (GSDs) are autosomal recessive metabolic disorders resulting in storage of abnormal amounts and/or forms of glycogen. Von Gierke disease is a GSD caused by defective liver and kidney glucose-6-phosphatase activity and is named after the pathologist who first described excess glycogen storage in the liver. The disease-causing mutation(s) can be either in the gene coding for the liver glucose-6-phosphatase enzyme (G6PC) or in the gene coding for the endoplasmic reticulum substrate and/or product transport proteins of the glucose-6-phosphatase system. The two common forms of GSD1 are termed GSD1a and GSD1b, and are caused by deficiency in G6PC and the glucose-6-phosphate transporter (G6PT1), respectively. The disease is currently managed by nocturnal nasogastric infusion of glucose and/or cornstarch mixed into drinks during the day, but compliance is often low. Recent advances in the use of gene therapy in animal models of the disease provide hope for this approach in the treatment of human patients in the future.
AB - Glycogen storage diseases (GSDs) are autosomal recessive metabolic disorders resulting in storage of abnormal amounts and/or forms of glycogen. Von Gierke disease is a GSD caused by defective liver and kidney glucose-6-phosphatase activity and is named after the pathologist who first described excess glycogen storage in the liver. The disease-causing mutation(s) can be either in the gene coding for the liver glucose-6-phosphatase enzyme (G6PC) or in the gene coding for the endoplasmic reticulum substrate and/or product transport proteins of the glucose-6-phosphatase system. The two common forms of GSD1 are termed GSD1a and GSD1b, and are caused by deficiency in G6PC and the glucose-6-phosphate transporter (G6PT1), respectively. The disease is currently managed by nocturnal nasogastric infusion of glucose and/or cornstarch mixed into drinks during the day, but compliance is often low. Recent advances in the use of gene therapy in animal models of the disease provide hope for this approach in the treatment of human patients in the future.
U2 - 10.1016/B978-0-12-374984-0.01631-4
DO - 10.1016/B978-0-12-374984-0.01631-4
M3 - Chapter
AN - SCOPUS:85043283654
SN - 9780123749840
SP - 304
EP - 307
BT - Brenner's encyclopedia of genetics
A2 - Maloy, Stanley
A2 - Hughes, Kelly
PB - Academic Press
CY - London
ER -