Neurological outcome of methylmalonic acidaemia
Institute of Child Health (UCLMS) and Great Ormond
Street Hospital for Children NHS Trust, London WC1, UK
Correspondence to: Dr R A H Surtees, The Wolfson Centre, Mecklenburgh Square, London WC1N 2AP, UK. email: R.Surtees{at}ich.ucl.ac.uk
Accepted 5 January 1998
OBJECTIVE
To assess the long term outcome
of patients with methylmalonic acidaemia in a cross sectional study.
PATIENTSAll 35 patients with methylmalonic
acidaemia seen at Great Ormond Street Hospital for Children in London,
UK between 1970 and 1996 were studied. They were divided into cobalamin
responsive (n = 6) and non-responsive (n = 29), and early and late
onset groups.
RESULTSThere was a significant
difference between cobalamin responsive and non-responsive groups in
severity, survival, and incidence of neurological sequelae. Cobalamin
responsive patients had mild disease, irrespective of age at
presentation, their neurological complications were less severe, and
they are all alive. The cobalamin non-responsive group comprised 19 early and nine late onset patients. The early onset patients had more
severe disease at presentation and 14 have died; all late onset
patients are alive. There was no significant difference in abnormal
neurological signs, although early onset patients had a significantly
reduced full scale intelligence quotient and poor cognitive outcome. In
both groups, abnormal neurological signs continue to increase with age.
CONCLUSIONSCobalamin responsive patients have a
better long term outcome. The outcome in the non-responsive patients,
particularly the early onset group, remains poor and alternative
treatments should therefore be considered early in this group.
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© 1998 by Archives of Disease in Childhood
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