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Doctor insights on: Glycogen Storage Disease Diagnosis

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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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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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Recent diagnosis w/autoimmune disease & skin biopsy result: urticaria or mast cell disease. Shouldn't biopsy give more definitive diagnosis?

Recent diagnosis w/autoimmune disease & skin biopsy result: urticaria or mast cell disease. Shouldn't biopsy  give more definitive diagnosis?

Hard to tell: Mast cells are the cells that release histamine in the body. This is what happens in urticaria, so one will see mast cells in biopsies of urticarial (hive-like) lesions. Mast cells can also be found in increased numbers in people with mastocytosis. Thus the biopsies may be similar. As stated by my colleague, the clinical history can be key to the diagnosis. Talk with your doc. ...Read more

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How are diagnoses of lysosome storage disorders differentiated from congenital disorders of glycosylation? References?

How are diagnoses of lysosome storage disorders differentiated from congenital disorders of glycosylation? References?

Difficult to differe: Lysosome storage disease, congenital disorders of glycosylation (cdg), peroxisomal disorders, smith-lemli-opitz are "single-gene disorders, most of which demonstrate autosomal-recessive inheritance. These 4 categories of metabolic diseases involve molecules important in cell membranes and share overlapping clinical presentations". (avery's diseases of the newborn, by w. Taeusch, 2005, p. 258). ...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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Describe the treatments enzyme substitution in wilson disease?

Describe the treatments enzyme substitution in wilson disease?

Wilson disease: Excess opper accumulation with serious end organ damage. Treatment after diagnosis is chelation therapy to diseaseexcess copper. Then avoidance of reaccumulation. See mayo clini wilsons disease well written and presented for non medical personnel. ...Read more

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What are tests for lipid storage disease?

What are tests for lipid storage disease?

LIPID STORAGE D.: Enzyme assay of WBC will diagnose the disease plus clinical sx. ...Read more

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Which test is better for diagnosing pancreas insufficiency: stool panc elastase or serum lipase/amylase? Would either diagnose pancreatic cancer?

Which test is better for diagnosing pancreas insufficiency: stool panc elastase or serum lipase/amylase? Would either diagnose pancreatic cancer?

Both together: Neither of the tests alone tells much. A combination of tests and exams will lead to diagnosis. Pancreatic cancer is not able to be ruled out by any test or imaging study. It can only be absolutely proven by some form of biopsy. A ct guided needle or egd with brushing a may be the only way to find it. ...Read more

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Liver biopsy: PAS:Glycogenated hepatocytes PAS w diastase: no hyaline globules No stainable iron Does this rule out fatty liver or liver disease?

Liver biopsy:
PAS:Glycogenated hepatocytes 
PAS w diastase: no hyaline globules
No stainable iron
Does this rule out fatty liver or liver disease?

Not all diseases: It rules deposition of iron and carbohydrates. The description does not mention fat. At times biopsy may not contain lesions present elsewhere in the organ. It would be prudent to discuss it with your doctor and better yet with your doctor and the pathologist who reviewed the biopsy. ...Read more

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Is autosomal dominant polycystic kidney disease testing available ?

Is autosomal dominant polycystic kidney disease testing available ?

Yes, but......: Testing for this disease is safe and simple but beware of what you ask for. Knowing that you have polycystic kidney disease will make it difficult or expensive to obtain life and health insurance. Best to get these issues under control first as early diagnosis (before renal insufficiency) offers no benefit. Knowing that you have the gene prior to having children is useful for family planning. ...Read more

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At which age wilson disease excluded ???

At which age wilson disease excluded ???

No age criteria: this is a disease mainly diagnosed based on symptoms and lab results. There is no cutoff in terms of age ...Read more

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What disease is caused by defective hemoglobin proteins?

What disease is caused by defective hemoglobin proteins?

Hemiglobinopathies: There are hundreds of these, from trivial to diseases that are so severe they kill before birth. ...Read more

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How come wilson's disease (hepatolenticular degeneration) considered a genetic disorder?

How come wilson's disease (hepatolenticular degeneration) considered a genetic disorder?

Because it is: No disrespect is intended. Two defective copies of the gene atp7b, one from each carrier parent, renders the person incapable of unloading copper from cells that need to lose it. ...Read more

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Does metformin regulate glucose made by liver? What's best way to treat diabetics, control liver glucose production or pancreatic insulin production?

Does metformin regulate glucose made by liver? What's best way to treat diabetics, control liver glucose production or pancreatic insulin production?

Yes but there's more: One of metformin's actions is reducing liver glucose production. It also helps improve the body's use of insulin, aka Insulin sensitivity. This is key to long term health with diabetes. Eating smart, exercise, and keeping to a good weight also help. Metformin is our usual first choice & meds that increase pancreatic Insulin production are not , but you & your doc must pick what's best for you. ...Read more

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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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Why do wilson disease patient have a low ceruloplasmin level? Is it due to wilson disease itself or low production by liver?

Why do wilson disease patient have a low ceruloplasmin level? Is it due to wilson disease itself or low production by liver?

Minor mystery: We do know that the liver tends to underproduce ceruloplasmin in Wilson's, but this is only the case in about 2/3 of patients and it is famously unreliable as a way of screening. The exact mechanisms still haven't been sorted out. ...Read more

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Is gaucher's disease a metabolic or genetic disorder?

Both: Gaucher disease is passed as an autosomal recessive genetic defect. It involves improper coding for an enzyme that would otherwise process and remove excess buildup of glycolipids from a variety of cells in the body. ...Read more

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Is motor neorone disease curable. .?

Is motor neorone disease curable. .?

Do Your Own Research: Answer: largely no unless one changes at least part of what is driving it. Neuro=nerve cell. Motor=muscle. Except for heart, no muscle cell in our body contracts without nerve impulse telling them to: ~0.001 sec per impulse. Motor neuron, from brain or spinal cord, axon growth into the cell matrix early in development & firing induces cells to become muscle cells. Medicine treats, rarely cures. ...Read more