Table 1 Characteristics of deceased cases
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 |