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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**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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