Table 1

Clinical data

Case NoSexOnsetAge at biopsyPresent ageClinical outcomeInvestigation
IEM, Immunogold electron microscopy; BOC, biosynthetic labelling of saccharase isomaltase in organ culture; OCT, organ culture with the endocytic tracers ovalbumin and ferritin; TPN, total parenteral nutrition.
1MCongenital5 weeks and 11 months17 monthsOn TPN, growth on 50% percentileIEM, BOC, OCT
2FCongenital2 weeks9 monthsOn TPNIEM
3MCongenital3 weeks20 monthsOn waiting list for transplantationIEM
4FLate onset3 and 7 months16 monthsOn TPNIEM