Multiple OXPHOS deficiency in the liver of a patient with CblA methylmalonic aciduria sensitive to vitamin B(12).
J Inherit Metab Dis
; 32(2): 159-62, 2009 Apr.
Article
in En
| MEDLINE
| ID: mdl-19277894
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Oxidative Phosphorylation
/
Vitamin B 12
/
Amino Acid Metabolism, Inborn Errors
/
Liver
/
Methylmalonic Acid
Type of study:
Diagnostic_studies
Limits:
Adult
/
Humans
/
Male
Language:
En
Journal:
J Inherit Metab Dis
Year:
2009
Document type:
Article
Affiliation country:
Country of publication:
EEUU
/
ESTADOS UNIDOS
/
ESTADOS UNIDOS DA AMERICA
/
EUA
/
UNITED STATES
/
UNITED STATES OF AMERICA
/
US
/
USA