https://idwiki.org/index.php?action=history&feed=atom&title=Glycogen_storage_disease 2026-05-13T01:38:24Z Revision history for this page on the wiki MediaWiki 1.43.8 https://idwiki.org/index.php?title=Glycogen_storage_disease&diff=9642&oldid=prev 2022-11-16T15:29:02Z

<p></p> <table style="background-color: #fff; color: #202122;" data-mw="interface"> <col class="diff-marker" /> <col class="diff-content" /> <col class="diff-marker" /> <col class="diff-content" /> <tr class="diff-title" lang="en"> <td colspan="2" style="background-color: #fff; color: #202122; text-align: center;">← Older revision</td> <td colspan="2" style="background-color: #fff; color: #202122; text-align: center;">Revision as of 15:29, 16 November 2022</td> </tr><tr> <td colspan="2" class="diff-lineno">Line 91:</td> <td colspan="2" class="diff-lineno">Line 91:</td> </tr> <tr> <td class="diff-marker"></td> <td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>* Liver transplantation</div></td> <td class="diff-marker"></td> <td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>* Liver transplantation</div></td> </tr> <tr> <td class="diff-marker"></td> <td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>|-</div></td> <td class="diff-marker"></td> <td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>|-</div></td> </tr> <tr> <td class="diff-marker" data-marker="−"></td> <td style="color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #ffe49c; vertical-align: top; white-space: pre-wrap;"><div>|GSD IV</div></td> <td class="diff-marker" data-marker="+"></td> <td style="color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #a3d3ff; vertical-align: top; white-space: pre-wrap;"><div>|GSD IV<ins style="font-weight: bold; text-decoration: none;"> (Andersen disease)</ins></div></td> </tr> <tr> <td class="diff-marker"></td> <td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>|glycogen branching enzyme deficiency</div></td> <td class="diff-marker"></td> <td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>|glycogen branching enzyme deficiency</div></td> </tr> <tr> <td class="diff-marker"></td> <td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>|</div></td> <td class="diff-marker"></td> <td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>|</div></td> </tr> <!-- diff cache key site7_mediawiki:diff:1.41:old-9641:rev-9642:wikidiff2=table:1.13.0:bc2a06be --> </table>

Aidan https://idwiki.org/index.php?title=Glycogen_storage_disease&diff=9641&oldid=prev 2022-11-16T15:28:00Z

<p>Created page with &quot;{| class=&quot;wikitable&quot; !Class !Defect !Clinical Clues !Diagnosis !Therapy |- |GSD 0a |Glycogen synthase 2 deficiency in liver | * Ketotic hypoglycemia * No hepatomegaly | * Liver biopsy and enzyme testing * DNA testing | * Uncooked cornstarch * Commercial glucose polymers (eg, Glycosade) * Liver transplantation |- |GSD 0b |muscle glycogen synthase deficiency | * Cardiomyopathy * Exercise intolerance * Weakness | * Muscle biopsy (glycogen depletion) * Enzyme assay * DNA tes...&quot;</p> <p><b>New page</b></p><div>{| class=&quot;wikitable&quot;<br /> !Class<br /> !Defect<br /> !Clinical Clues<br /> !Diagnosis<br /> !Therapy<br /> |-<br /> |GSD 0a<br /> |Glycogen synthase 2 deficiency in liver<br /> |<br /> * Ketotic hypoglycemia<br /> * No hepatomegaly<br /> |<br /> * Liver biopsy and enzyme testing<br /> * DNA testing<br /> |<br /> * Uncooked cornstarch<br /> * Commercial glucose polymers (eg, Glycosade)<br /> * Liver transplantation<br /> |-<br /> |GSD 0b<br /> |muscle glycogen synthase deficiency<br /> |<br /> * Cardiomyopathy<br /> * Exercise intolerance<br /> * Weakness<br /> |<br /> * Muscle biopsy (glycogen depletion)<br /> * Enzyme assay<br /> * DNA testing<br /> |<br /> * No specific treatment<br /> |-<br /> |GSD Ia (von Gierke disease)<br /> |glucose-6-phosphatase deficiency<br /> | rowspan=&quot;2&quot; |<br /> * Ketotic hypoglycemia<br /> * Hepatomegaly<br /> | rowspan=&quot;2&quot; |<br /> * DNA testing<br /> * Liver biopsy<br /> * Enzyme assay<br /> | rowspan=&quot;2&quot; |<br /> * Uncooked cornstarch<br /> * Allopurinol<br /> * Granulocyte colony-stimulating factor (G-CSF)<br /> * Commercial glucose polymers (eg, Glycosade)<br /> * Liver transplantation<br /> |-<br /> |GSD Ib<br /> |q transport defect<br /> |-<br /> |GSD II (Pompe disease)<br /> |lysosomal acid maltase deficiency<br /> |<br /> * Hypotonia<br /> * Muscle weakness<br /> * Hypertrophic cardiomyopathy<br /> * Rhabdomyolysis<br /> |<br /> * Fibroblast, leukocyte, muscle, or liver enzyme assay<br /> * DNA testing<br /> |<br /> * Enzyme replacement therapy<br /> * Commercial glucose polymers (eg, Glycosade)<br /> * Liver transplantation<br /> |-<br /> |GSD IIb (Danon disease)<br /> |lysosome-associated membrane protein 2 (LAMP2) deficiency<br /> |<br /> * Hypotonia<br /> * Hypertrophic cardiomyopathy<br /> * Rhabdomyolysis<br /> |<br /> * Muscle biopsy<br /> * DNA testing<br /> |<br /> * No specific treatment<br /> |-<br /> |GSD III<br /> |glycogen debrancher deficiency<br /> |<br /> * Ketotic hypoglycemia<br /> * Hepatomegaly<br /> |<br /> * Fibroblast or liver enzyme assay<br /> * DNA testing<br /> |<br /> * Uncooked cornstarch<br /> * Commercial glucose polymers (eg, Glycosade)<br /> * Liver transplantation<br /> |-<br /> |GSD IV<br /> |glycogen branching enzyme deficiency<br /> |<br /> * Hepatomegaly<br /> * Cirrhosis<br /> * Rare neuromuscular presentations, such as fetal akinesia sequence, myopathy, axonal neuropathy, adult polyglucosan body disease<br /> |<br /> * Fibroblast, muscle, or liver biopsy<br /> * DNA testing<br /> |<br /> * Commercial glucose polymers (eg, Glycosade)<br /> * Liver transplantation<br /> |-<br /> |GSD V (McArdle disease)<br /> |muscle phosphorylase deficiency<br /> |<br /> * Fatigability<br /> * Myoglobinuria<br /> * Rhabdomyolysis<br /> |<br /> * Muscle biopsy<br /> * Muscle enzyme assay<br /> * DNA testing<br /> |<br /> * Sucrose prior to exercise<br /> |-<br /> |GSD VI (Hers disease)<br /> |liver phosphorylase deficiency<br /> |<br /> * Hepatomegaly<br /> * Mild hypoglycemia<br /> |<br /> * Liver biopsy and enzyme assay<br /> * DNA testing<br /> |<br /> * Commercial glucose polymers (eg, Glycosade)<br /> * Liver transplantation<br /> |-<br /> |GSD VII (Tarui disease)<br /> |phosphofructokinase deficiency in muscle<br /> |<br /> * Fatigability<br /> * Myoglobinuria<br /> * Rhabdomyolysis<br /> |<br /> * Muscle enzyme assay<br /> * DNA testing<br /> |<br /> * No specific treatment<br /> |-<br /> |Phosphoglycerate kinase deficiency<br /> |phosphoglycerate kinase deficiency<br /> |<br /> * Hemolysis<br /> * Fatigability<br /> * Myoglobinuria<br /> * CNS dysfunction<br /> * Rhabdomyolysis<br /> |<br /> * Muscle/RBC enzyme assay<br /> * DNA testing<br /> |<br /> * Bone marrow transplantation<br /> |-<br /> |GSD IX<br /> |phosphorylase kinase deficiency<br /> | rowspan=&quot;5&quot; |<br /> * Hepatomegaly<br /> * Mild hypoglycemia<br /> * Fatigability<br /> * Exercise intolerance<br /> | rowspan=&quot;5&quot; |<br /> * Liver/muscle biopsy<br /> * Enzyme assay<br /> * DNA testing<br /> | rowspan=&quot;5&quot; |<br /> * Commercial glucose polymers (eg, Glycosade)<br /> * Liver transplantation<br /> |-<br /> |GSD IXa1 (GSD VII)<br /> |alpha-2 subunit defect in liver<br /> |-<br /> |GSD IXb<br /> |beta subunit defect in liver<br /> |-<br /> |GSDIXc<br /> |gamma subunit defect in liver and muscle<br /> |-<br /> |GSD IXd<br /> |alpha subunit defect in muscle<br /> |-<br /> |GSD X<br /> |phosphoglycerate mutase deficiency<br /> |<br /> * Fatigability<br /> * Myoglobinuria<br /> * Exercise intolerance<br /> * Rhabdomyolysis<br /> |<br /> * Muscle biopsy and enzyme assay<br /> * DNA testing<br /> |<br /> * No specific treatment<br /> |-<br /> |GSD XI<br /> |lactate dehydrogenase A (LDHA) deficiency and lactate dehudogenase B (LDHB) deficiency<br /> |<br /> * Fatigability<br /> * Myoglobinuria<br /> * Rhabdomyolysis<br /> |<br /> * Muscle or RBC enzyme assay<br /> * DNA testing<br /> |<br /> * No specific treatment<br /> |-<br /> |Fanconi-Bickel syndrome<br /> |GLUT2 deficiency<br /> |<br /> * Growth retardation<br /> * Renal Fanconi syndrome<br /> * Galactosemia<br /> |<br /> * Clinical features<br /> * DNA testing<br /> |<br /> * Frequent, small meals<br /> * Uncooked cornstarch or nocturnal enteral nutrition<br /> * Electrolytes, carnitine, and vitamin D as needed<br /> * Restriction of galactose<br /> |-<br /> |GSD XII<br /> |aldolase A deficiency<br /> |<br /> * Hemolysis<br /> * Jaundice<br /> * Myoglobinuria<br /> * Muscle weakness<br /> * Fatigability<br /> * Rhabdomyolysis<br /> |<br /> * Muscle or RBC enzyme assay<br /> * DNA testing<br /> |<br /> * No specific treatment<br /> |-<br /> |GSD XIII<br /> |beta-enolase deficiency in muscle<br /> |<br /> * Exercise intolerance<br /> * Increased CPK<br /> * Rhabdomyolysis<br /> |<br /> * Muscle biopsy<br /> * Enzyme assay<br /> * DNA testing<br /> |<br /> * No specific treatment<br /> |-<br /> |GSD XIV<br /> |phosphoglucomutase 1 deficiency in muscle<br /> |<br /> * Exercise intolerance<br /> * Myoglobinuria<br /> * Increased CPK<br /> * Rhabdomyolysis<br /> * Myoglobinuria<br /> |<br /> * Muscle biopsy<br /> * Enzyme assay<br /> * DNA testing<br /> |<br /> * No specific treatment<br /> |-<br /> |GSD XV<br /> |glycogenin 1 deficiency in muscle<br /> |<br /> * Muscle weakness<br /> * Arrhythmias<br /> |<br /> * Muscle biopsy (glycogen depletion)<br /> * DNA testing<br /> |<br /> * No specific treatment<br /> |}<br /> [[Category:Genetic syndromes]]</div>

Aidan