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Doctor insights on: Glycogen Storage Disease Type V Gsdv

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Is there any test than can be done to test for carrier of glycogen storage disease type 1a ?

Is there any test than can be done to test for carrier  of glycogen storage  disease type 1a ?

Von Gierke Disease: Molecular genetic testing for mutations of the G6PC gene on chromosome 17q21 is available. If 1 parent is a carrier, the other parent needs testing. If both are carriers, each fetus. has a 25% chance of inheriting the mutant gene from both parents, thus having VGD. Prenatal molecular genetic testing of amniotic fluid is also available. Call 1300-88-1362 or see http://m.dna-laboratories.com. ...Read more

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Are there any new treatments for type 1 glycogen storage disease?

Are there  any new treatments for type 1 glycogen storage disease?

Maintenance of close: to normal/ normal blood glucose & treatment of other metabolic problems can improve growth & extend lifespan in kids with GSD Types 1a & 1b. Some now live healthier lives into adulthood. GCSF is a medication to increase the number of white blood cells. Managing diet, dental, bone density, kidney, liver, etc.problems is key. See http://www.agsdus.org/html/typeigsd.html for infirmation & resources. ...Read more

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Can glucagon injection treat all types of glycogen storage disease?

Can glucagon injection treat all types of glycogen storage disease?

No: Glycogen storage disease are rare genetic disorders associated with a defect in processing glycogen. Some forms can be treated by eating simple sugars (corn starch), some have no particular treatment. I am not aware of glucagon being used in any of these disorders. ...Read more

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Is there treatment for glycogen storage disease?

Is there treatment for glycogen storage disease?

Yes: Especially treatment for type one GSD which involves feedings with corn starch. Consult your doctor for which type of storage disease and what the treatment is for that particular type. ...Read more

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Is there a good diet plan for glycogen storage disorder type IX?

Is there a good diet plan for glycogen storage disorder type IX?

Sure: There are excellent diets designed for all different types of storage disorders. However, very few people are well versed in what these diets consist of. Find a dietician associated with a genetics center or with a pediatric hospital that deals with these disorders frequently, like Cleveland Clinic, Childrens Hospital of Philidelphia, Mayo, Waisman Center to name a few. ...Read more

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Do you know if adult pompe disease is caused by a sudden mutation or a long build up of glycogen?

Do you know if adult pompe disease is caused by a sudden mutation or a long build up of glycogen?

Long build up: I'm not a geneticist; and, there are good references on this subject easily available on the net. However, a quick answer is long build-up. The disease is viewed as constitutional (born-in) and not a later development of a "sudden mutation". If you are really interested, do your homework on the subject by looking at NIH and other sites. ...Read more

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What type of blood test checks for low glycogen stores.. I am constantly tired and seem to have an exercise intolerants?

What type of blood test checks for low glycogen stores.. I am constantly tired and seem to have an exercise intolerants?

See doctor: It is unlikely that your symptoms are caused by low glycogen store. Myopathy can cause exercise intolerance but what is the cause for it? Have you consulted a rheumatologist or neurologist yet? If not, consider seeing one. Do note that there are other potential causes for exercise intolerance which need be considered. ...Read more