LONG-TERM FOLLOW-UP OF PATIENTS WITH TRANSCOBALAMIN-II DEFICIENCY

Five cases of transcobalamin II deficiency presenting to our instituti on were reviewed. A delay in diagnosis often led to acute deterioratio n. Two patients have long term neurological sequelae. Minimal treatmen t in these patients may be dangerous. While haematological normality m ay be maintained, the adequate therapeutic dose of vitamin B-12 to all ow normal neurological development and function is not easily determin ed and damage sustained early in life may be irreversible.