Multiple OXPHOS deficiency in the liver of a patient with CblA methylmalonic aciduria sensitive to vitamin B(12)
Details
Serval ID
serval:BIB_278E46C12E6B
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Multiple OXPHOS deficiency in the liver of a patient with CblA methylmalonic aciduria sensitive to vitamin B(12)
Journal
J Inherit Metab Dis
ISSN
1573-2665 (Electronic)
ISSN-L
0141-8955
Publication state
Published
Issued date
04/2009
Volume
32
Number
2
Pages
159-62
Language
english
Notes
Valayannopoulos, V
Hubert, L
Benoist, J F
Romano, S
Arnoux, J B
Chretien, D
Kaplan, J
Fakhouri, F
Rabier, D
Rotig, A
Lebre, A S
Munnich, A
de Keyzer, Y
de Lonlay, P
eng
Case Reports
Research Support, Non-U.S. Gov't
J Inherit Metab Dis. 2009 Apr;32(2):159-62. doi: 10.1007/s10545-009-1023-1. Epub 2009 Mar 13.
Hubert, L
Benoist, J F
Romano, S
Arnoux, J B
Chretien, D
Kaplan, J
Fakhouri, F
Rabier, D
Rotig, A
Lebre, A S
Munnich, A
de Keyzer, Y
de Lonlay, P
eng
Case Reports
Research Support, Non-U.S. Gov't
J Inherit Metab Dis. 2009 Apr;32(2):159-62. doi: 10.1007/s10545-009-1023-1. Epub 2009 Mar 13.
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.
Keywords
Adult, Amino Acid Metabolism, Inborn Errors/*drug therapy/genetics/*metabolism, Citric Acid Cycle/physiology, DNA, Mitochondrial/chemistry/genetics, Electron Transport/physiology, Fatal Outcome, Humans, Liver/*metabolism/pathology, Male, Methylmalonic Acid/*urine, Muscle, Skeletal/pathology, *Oxidative Phosphorylation, Vitamin B 12/*therapeutic use/*urine
Pubmed
Create date
01/03/2022 11:18
Last modification date
02/03/2022 7:35
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