#Cystinosis is a rare genetic disorder caused by mutations in the #CTNS gene, leading to cystine buildup in lysosomes.

Interpretation: A rare inherited condition where cystine collects in tiny cell parts, damaging organs over time.

Source: American Journal of Physiology-Renal Physiology, 🔗 in bio.

Over 100 different mutations in the #CTNS gene have been found, this is the genetic difference that causes #Cystinosis. 

Source: Orphanet Journal of Rare Diseases, 🔗 in bio.

The #CTNS gene is at the heart of cystinosis. When it doesn’t work, cystine can’t escape cell lysosomes, leading to harmful buildup. 🧬  (Source: Orphanet Journal of Rare Diseases, 🔗 in bio.)

Simply put, cells in Oliver's body don't take out the trash, it piles up to form no-good-very-bad crystals.

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