3-Methylglutaconic aciduria associated with Pearson syndrome and respiratory chain defects

K M Gibson; M J Bennett; C E Mize; C Jakobs; A Rotig; A Munnich; U Lichter-Konecki; F K Trefz

doi:10.1016/s0022-3476(05)80348-8

3-Methylglutaconic aciduria associated with Pearson syndrome and respiratory chain defects

J Pediatr. 1992 Dec;121(6):940-2. doi: 10.1016/s0022-3476(05)80348-8.

Authors

K M Gibson¹, M J Bennett, C E Mize, C Jakobs, A Rotig, A Munnich, U Lichter-Konecki, F K Trefz

Affiliation

¹ Kimberly H. Courtwright and Joseph W. Summers Metabolic Disease Center, Baylor University Medical Center, Dallas, Texas.

PMID: 1447663
DOI: 10.1016/s0022-3476(05)80348-8

Abstract

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Acidosis, Lactic / urine*
Anemia, Aplastic / urine*
Biomarkers / urine
Child, Preschool
DNA, Mitochondrial / genetics
Electron Transport
Female
Gene Deletion
Glutarates / urine*
Humans
Hydro-Lyases / drug effects
Infant
Male
Mitochondria / metabolism
Neutropenia / urine*
Syndrome
Thrombocytopenia / urine*

Substances

Biomarkers
DNA, Mitochondrial
Glutarates
3-methylglutaconic acid
Hydro-Lyases
methylglutaconyl-CoA hydratase