Overview of Lysosomal Storage Diseases including Cystinosis, Fabry’s disease, Gaucher’s disease, Hunter’s disease, Hurler’s disease, Sanfillipo Syndrome, Krabbe’s disease, Niemann-Pick disease, Tay-Sach’s disease. Lysosomal storage diseases are inborn errors of metabolism that are rare conditions inherited through recessive genes. There are many lysosomal storage diseases and each are caused by mutations that reduce the efficacy of lysosomal enzymes or lysosomal transporters, thus resulting in accumulation or “storage” of compounds within the lysosome. Each condition has specific physical findings as well.
In this lesson, we discuss these lysosomal storage diseases, and we discuss a variety of mnemonics we can use to help us remember what we need to know about these conditions.
Subscribe for more free medical lessons / @jjmedicine
-------------------------------------------------------------------------------------------------------------
For books and more information on these topics
www.amazon.com/shop/jjmedicine
Support future lessons (and get other cool stuff) ➜ / jjmedicine
Follow me on Twitter! ➜ / jj_medicine
Come join me on Facebook! ➜ / jj-medicine-1006426481...
Start your own website with BlueHost ➜ www.bluehost.com/track/jjmedi...
Check out the best tool to help grow your KZfaq channel (it’s helped me!)
www.tubebuddy.com/jjmedicine
-------------------------------------------------------------------------------------------------------------
Check out some of my other lessons.
Medical Terminology - The Basics - Lesson 1:
• Medical Terminology - ...
Fatty Acid Synthesis Pathway:
• Fatty Acid Synthesis P...
Wnt/B Catenin Signaling Pathway:
• Wnt/β-Catenin Signalin...
Upper vs. Lower Motor Neuron Lesions:
• Upper and Lower Motor ...
Lesson on the Purine Synthesis and Salvage Pathway:
• Purine Synthesis and S...
Gastrulation | Formation of Germ Layers:
• Gastrulation | Formati...
Introductory lesson on Autophagy (Macroautophagy):
• Autophagy | Macroautop...
Infectious Disease Playlist
• Infectious Diseases
Dermatology Playlist
• Dermatology
Pharmacology Playlist
• Pharmacology
Hematology Playlist
• Hematology
Rheumatology Playlist
• Rheumatology
Endocrinology Playlist
• Endocrinology
Nephrology Playlist
• Nephrology
----------------------------------------------------------------------------------------------------
**MEDICAL DISCLAIMER**: JJ Medicine does not provide medical advice, and the information available on this channel does not offer a diagnosis or advice regarding treatment. Information presented in these lessons is for educational purposes ONLY, and information presented here is not to be used as an alternative to a healthcare professional’s diagnosis and treatment of any person/animal.
Only a physician or other licensed healthcare professional are able to determine the requirement for medical assistance to be given to a patient. Please seek the advice of your physician or other licensed healthcare provider if you have any questions regarding a medical condition.
----------------------------------------------------------------------------------------------------
Although I try my best to present accurate information, there may be mistakes in this video. If you do see any mistakes with information in this lesson, please comment and let me know.
I am always looking for ways to improve my lessons! Please don't hesitate to leave me feedback and comments - all of your feedback is greatly appreciated! :) And please don't hesitate to send me any messages if you need any help - I will try my best to be here to help you guys :)
Thanks for watching! If you found this video helpful, please like and subscribe!
JJ