What are metabolic storage diseases?

Also known as: lysosomal storage diseases.

Metabolic storage diseases are a fairly large group of rare genetic inherited disorders in which specific enzymes of a child's cell are insufficient. Enzymes help break down certain materials within the cell for proper cell function.

Without an appropriate enzyme balance, materials within the cell can accumulate and sometimes become toxic causing the cell to either not function properly or die.

Many vital organs such as the liver, the brain and more, can be affected.


Reviewed by: Parul B Jayakar, MD

This page was last updated on: 1/29/2019 3:21:13 PM

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