Multiple OXPHOS deficiency in the liver of a patient with CblA methylmalonic aciduria sensitive to vitamin B12

• Published in: Journal of inherited metabolic disease Vol. 32; no. 2; pp. 159 - 162
• Main Authors: 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., de Keyzer, Y., de Lonlay, P.
• Format: Journal Article Conference Proceeding
• Language: English
• Published: Dordrecht Springer Netherlands 2009; Springer; Blackwell Publishing Ltd
• Subjects: Biochemistry; Biological and medical sciences; Human Genetics; Internal Medicine; Medical genetics; Medical sciences; Medicine; Medicine & Public Health; Metabolic Diseases; Pediatrics; SSIEM Symposium 2008; Methylmalonic; Methylmalonic Acid; Fumarate Hydratase; Organic Aciduria; Methylmalonic Aciduria; Human; Multiple handicap; Nutrition; Digestive system; Liver; Aciduria; Patient; Metabolic diseases; B-Vitamins; Cyanocobalamin; Genetic disease; Methylmalonic acid; Genetics
• ISSN: 0141-8955; 1573-2665
• DOI: 10.1007/s10545-009-1023-1

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.