Lysosomal storage disease FA flowchart important?

[voicesinmyhead]

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This is the one im talking about.

It never makes much sense however much times I read it. Not the diseases but the byproducts and how they're connected to each other.

Is this important to know?

thanks

 

[tasar1898]

Nahh , just memorize the diseases , no concepts here... Learn all of them by heart .. Maybe know that ceramide is sphingosine and fatty acids and all these weird molecules are sphingoLIPIDS and not carbs or proteins + important for cell membranes and regenerate all the time.. That's why you get accumulations and symptoms if one of those weird enzymes don't work

 

[walakin25]

fabry is so popular, she is the alpha-gal

 

[worldbeater]

Yeah..I kept screwing these questions up, because I couldn't figure out what disease went with what accumulation. You don't have to memorize the entire chart, I'll type out I have highlighted in my Notes that matched up with UWorld:

-Fabry's (alpha galactosidase enzyme deficiency) - accumulation of ceramide trihexoside "patient has greatest risk of developing?" -> early renal failure . Nice mnemonic in the previous post as well.

-Tay Sachs (hexoseminidase A) - "accumulated metabolite? -> GM 2 ganglioside

-Neimann-Pick disease ("deficiency of" sphingomyelinase) - accumulation of sphingomyelin

There you go, 3 main diseases to keep organized in your head to get you through those type of questions.

 

[Kazaki]

Hey guys
I was going through my biochem notes and I realised that I went waaayyyyy overboard when I studied lysosomal storage diseases. Are the ones in first aid the only ones we need to know for the boards? Cuz there's like another 5 off the top of my head