The diagnosis is suspected when a baby presents with icterus, discoloured stools and hepatomegaly (enlargement of the liver). Other aetiologies of a neonatal cholestatic icterus can be excluded upon further investigations of condition of the bile ducts. Untreated the disease leads to liver cirrhosis and to death within the first years of life.

Illustration: Typical discoloured stool in biliary atresia.