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.

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Check out some of my other lessons.

Medical Terminology – The Basics – Lesson 1:

Fatty Acid Synthesis Pathway:

Wnt/B Catenin Signaling Pathway:

Upper vs. Lower Motor Neuron Lesions:

Lesson on the Purine Synthesis and Salvage Pathway:

Gastrulation | Formation of Germ Layers:

Introductory lesson on Autophagy (Macroautophagy):

Infectious Disease Playlist

Dermatology Playlist

Pharmacology Playlist

Hematology Playlist

Rheumatology Playlist

Endocrinology Playlist

Nephrology Playlist

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**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.

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*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.*

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JJ
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NOTE: Very upsetting testimony. The trial for this case wasn’t streamed but there were quite a few clips from the trial so have compiled them all into this video
Pearl Fernandez and her boyfriend, Isauro Aguirre, have been convicted of murdering Fernandez’s son, Gabriel Fernandez, 8.
Gabriel was abused, beaten and tortured for months before he died.

Please call the hotline if you or anyone you know needs help:

National Child Abuse Hotline at 1-800-4-A-CHILD (1-800-422-4453)
https://www.childhelp.org/contact/
http://preventchildabuse.org/
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