| Literature DB >> 19277894 |
V Valayannopoulos1, L Hubert, J F Benoist, S Romano, J B Arnoux, D Chrétien, J Kaplan, F Fakhouri, D Rabier, A Rötig, A S Lebre, A Munnich, Y de Keyzer, P de Lonlay.
Abstract
An adult patient with methylmalonic aciduria due to defective cobalamin synthesis (CblA) responsive to vitamin B(12) presented suddenly with severe visual impairment ascribed to optic atrophy followed by a fatal multiorgan failure and lactic acidosis but low methylmalonic acid in plasma and urine. Multiple deficiency of oxidative phosphorylation was found in the patient's liver. We suggest that patients with B(12)-sensitive methylmalonic aciduria who have a milder clinical course should be carefully monitored for long-term complications.Entities:
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Year: 2009 PMID： 19277894 DOI： 10.1007/s10545-009-1023-1
Source DB: PubMed Journal: J Inherit Metab Dis ISSN： 0141-8955 Impact factor: 4.982