Table 1.

Clinical data

Case No	Sex	Onset	Age at biopsy	Present age	Clinical outcome	Investigation
1	M	Congenital	5 weeks and 11 months	17 months	On TPN, growth on 50% percentile	IEM, BOC, OCT
2	F	Congenital	2 weeks	9 months	On TPN	IEM
3	M	Congenital	3 weeks	20 months	On waiting list for transplantation	IEM
4	F	Late onset	3 and 7 months	16 months	On TPN	IEM

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.