Question Title: any info on Brancher Enzyme deficiency-Type4-Andersens disease

I have been diagnosed (by muscle biopsy) with brancher enzyme deficiency or glycogyn storage deficiency type 4 or Andersens disease. Apparently I'm the 3rd or 4th documented case that does not have any liver damage but just muscle pain and weakness since toddler, increasing in severity with age. I am 40 yr old female. I am seeing Neurologist but he doesn't have much info on disease. Trying all sorts of meds with no luck. Currently on Ultram 4x day and Ambien 5mg at night. Just wondering if there is any place doing any kind of research etc. My 18 yr old son also suffers same symptoms as I did but I will not allow muscle biopsy on him due to the extended amount of time to rehabilitate my leg. Is there a blood test out there that can determine this disease? Any info would be appreciated. Thank you

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Dear Linda,

Thank you for your question. You are very lucky if indeed you do not have liver problem related to your glycogen storage disease. Liver problem is practically universal in type IV.
There is an ezyme, but I don't know if assay/testing for this enzyme is availble commercially.
The enzyme is (sorry for the long name).
alpha-1,4-Glucan 6-glucosyltransferase.
It is inherited in autosomal recessive fashion.
Unfortunately there is no treatment to correct the enzymatic deficiency
but your neurologist can provide symptomatic treatment.
I hope this helps and good luck.

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