3-Methylglutaconic aciduria associated with Pearson syndrome and respiratory chain defects.
3-Methylglutaconic aciduria was detected in four patients with Pearson syndrome, a multitissue disorder with hematologic abnormalities, lactic acidosis resulting from defective oxidative phosphorylation, and deletions in the mitochondrial genome. 3-Methylglutaconic acid may be an additional useful marker for Pearson syndrome and may be a more specific marker than other organic acids identified in this disorder.
Gibson
K M
KM
Kimberly H. Courtwright and Joseph W. Summers Metabolic Disease Center, Baylor University Medical Center, Dallas, Texas.
Bennett
M J
MJ
Mize
C E
CE
Jakobs
C
C
Rotig
A
A
Munnich
A
A
Lichter-Konecki
U
U
Trefz
F K
FK
D000140:Acidosis, Lactic / Q000652:urine*; D000741:Anemia, Aplastic / Q000652:urine*; D015415:Biomarkers / Q000652:urine; D002675:Child, Preschool; D004272:DNA, Mitochondrial / Q000235:genetics; D004579:Electron Transport; D005260:Female; D017353:Gene Deletion; D005977:Glutarates / Q000652:urine*; D006801:Humans; D006836:Hydro-Lyases / Q000187:drug effects; D007223:Infant; D008297:Male; D008928:Mitochondria / Q000378:metabolism; D009503:Neutropenia / Q000652:urine*; D013577:Syndrome; D013921:Thrombocytopenia / Q000652:urine*
D015415:Biomarkers; D004272:DNA, Mitochondrial; D005977:Glutarates; C022034:3-methylglutaconic acid; D006836:Hydro-Lyases; C035867:methylglutaconyl-CoA hydratase