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What is Alagille Syndrome and How is it Diagnosed?

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themighty.com

Alagille syndrome (AGLS) is a genetic disorder of the liver that develops when bile ducts do not form properly or there are too few of them.

Bile ducts are small tubes that allow bile, a digestive enzyme, to pass through to the small intestine. When bile cannot flow freely, it backs up into the liver, a condition called cholestasis that can lead to liver damage.

AGLS is caused by mutation of a gene. In most cases it is the Jagged1 gene, but in less than 1% of cases it is the Notch2 gene.

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