Abstract
A 2-year-old female with cirrhosis was found to have a liver copper of 248 μg/g dry weight. She was eventually diagnosed with ABCB4 disease on the basis of heterozygote A546D and R176W mutations. Her liver disease was partially responsive to ursodeoxycholic acid therapy. Copper overload occurs in cholestatic liver disease and this must be considered to avoid misdiagnosis of Wilson disease.
Keywords: Bile, cholestasis, pediatric, phospholipid
Abbreviations: SIFT, sorting intolerant from tolerant
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