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Table 1 Characteristics of deceased cases

From: Risk factors associated with mortality in neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) and clinical implications

No SLC25A13 gene mutations Age at referral (months) Condition at referral LF/MCT formula Age of death (Mo) Cause of death
1 851del4/1638ins23 6 Cirrhosis, liver failure No 8 Liver failure
2 851del4/IVS16ins3kb 9 Liver failure, hepatosplenomegaly, bile sludge, ascites No 9.5 Liver failure
3 851del4/IVS16ins3kb 5 Liver failure No 6 Liver failure
4 851del4/851del4 4 cholestasis Yes 5 Infection, sudden death
5 851del4/851del4 19 cholestasis Yes 23 Liver failure, infection
6 851del4/IVS6 + 5G > A 6 cholestasis Yes 9 Liver failure, infection
7 851del4/IVS16ins3kb 11 Liver failure, hepato-renal syndrome No 11 Liver failure, kidney failure
8 851del4/1638ins23 6 cholestasis Yes 6 Liver failure, recurrent infection
9 851del4/1638ins23 13 Liver failure, hepatosplenomegaly, Yes 13 Liver failure, diarrhea, suspected interstitial lung disease, brain MRI abnormality