Genetic Defects

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LurkerDO

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You guys are pretty sharp. Got any idea for how to remember those spiffy genetic diseases? What's deficient, what builds up and how it's inherited?

I tried making up stories for them like I do with micro ...but it didn't go so well.


If anyone has any bright ideas or tricks they'd like to share. Trying to keep the number of "jumbleable" things in my brain down to a minimum.
 
Are you talking about about Lysosomal storage diseases? Specify which ones you are talking about.
 
Are you talking about about Lysosomal storage diseases? Specify which ones you are talking about.

Yeah, I'm sorry. those are what I'm referring to. I know they're heavily tested, and I always FEEL LIKE I know what they are and then I go to answer a question and....well. You can see where this is going.
 
I just went on flashcardexchange.com last night and searched lysosomal storage diseases and somebody had made about thirty cards on them so I studied those and it helped. Make sure you have first aid open to that page though b/c a couple of them were either wrong or had an alternate name (that was only one or two of the 30 cards though so whatever). I also tried to make up some mnemonics but they may only work well for me. I'll tell you them anyways though. Fabry's, I already knew it was XLR so the I think X = ceramide triheXoside. I also can remember that Fabry's is also known as Angiokeratoma Corporis Difusum so I think Angiokeratomas = Alpha gAlactosidase A; I can remember that Gaucher's = bone findings so I think Gaucher's=Bones=Beta-glucocereBrosidase. For Niemann-Pick I use the FA thing (No man picks...). Tay-Sach's I use the FA thing. Same with Hunters. Metachromatic leukodystrophy I somehow just remember its a demyelinating dz and that Arylsulfatase A thing just sticks in my head. For Krabbe's, well like Goljan says "the other one is the other one."
I know that is not going to help at all probably, but that is how I remember them, and at least try the flash cards or making up your own little mnemonics. Also you probably do know a few of them so you can check those off and then just memorize the other ones. Also its multiple choice so if you can even remember part of the name of an enzyme you are good haha
 
haha I bet I will get that on the test and I'm gonna think about drinking me some delicious crab milk lol
 
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