A member asked:

Have you heard of cystinosis? what is it and how is it controlled?

A doctor has provided 1 answer
Dr. Pedro Hernandez answered

Specializes in Geriatrics

Rare: Nephropathic cystinosis is an inherited (autosomal recessive) lysosomal storage disorder caused by defective transport of the Amino Acid cystine out of lysosomes. The stored cystine is poorly soluble and crystallizes within the lysosomes of many cell types, leading to widespread tissue and organ damage. Go part 2.

Answered 12/17/2014

6.1k views

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