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Multiple OXPHOS deficiency in the liver of a patient with CblA methylmalonic aciduria sensitive to vitamin B 12
Author(s) -
Valayannopoulos V.,
Hubert L.,
Benoist J. F.,
Romano S.,
Arnoux J. B.,
Chrétien D.,
Kaplan J.,
Fakhouri F.,
Rabier D.,
Rötig A.,
Lebre A. S.,
Munnich A.,
Keyzer Y.,
Lonlay P.
Publication year - 2009
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-009-1023-1
Subject(s) - methylmalonic aciduria , vitamin b12 , medicine , human genetics , methylmalonic acid , genetics , biology , gene
Summary 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.