OBJECTIVE: To assess the long term outcome of patients with methylmalonic acidaemia in a cross sectional study. PATIENTS: All 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. RESULTS: There 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. CONCLUSIONS: Cobalamin 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.
OBJECTIVE: To assess the long term outcome of patients with methylmalonic acidaemia in a cross sectional study. PATIENTS: All 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. RESULTS: There 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. CONCLUSIONS:Cobalamin 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.
Authors: C F de Mello; J Begnini; R E Jiménez-Bernal; M A Rubin; J de Bastiani; E da Costa; M Wajner Journal: Brain Res Date: 1996-05-20 Impact factor: 3.252
Authors: Jana Heringer; Vassili Valayannopoulos; Allan M Lund; Frits A Wijburg; Peter Freisinger; Ivo Barić; Matthias R Baumgartner; Peter Burgard; Alberto B Burlina; Kimberly A Chapman; Elisenda Cortès I Saladelafont; Daniela Karall; Chris Mühlhausen; Victoria Riches; Manuel Schiff; Jolanta Sykut-Cegielska; John H Walter; Jiri Zeman; Brigitte Chabrol; Stefan Kölker Journal: J Inherit Metab Dis Date: 2015-12-21 Impact factor: 4.982
Authors: C W Bassim; J T Wright; J P Guadagnini; R Muralidharan; J Sloan; D L Domingo; C P Venditti; T C Hart Journal: Oral Dis Date: 2009-01-09 Impact factor: 3.511
Authors: Annik Simons; François Eyskens; Ann De Groof; Ellen Van Diest; Dirk Deboutte; Robert Vermeiren Journal: Eur Child Adolesc Psychiatry Date: 2006-03-10 Impact factor: 4.785