The urinary organic acids profile in single large-scale mitochondrial DNA deletion disorders.
Clin Chim Acta
; 481: 156-160, 2018 Jun.
Article
in En
| MEDLINE
| ID: mdl-29534959
ABSTRACT
Single large-scale mitochondrial DNA deletions disorders are classified into three main phenotypes with frequent clinical overlap Pearson marrow-pancreas syndrome (PMS), Kearns-Sayre syndrome (KSS) and chronic progressive external ophtalmoplegia (PEO). So far, only few anecdotal studies have reported on the urinary organic acids profile in this disease class. In this single-center retrospective study, we performed quantitative evaluation of urinary organic acids in a series of 15 pediatric patients, 7 with PMS and 8 with KSS. PMS patients showed an organic acids profile almost constantly altered, whereas KSS patients frequently presented with normal profiles. Lactate, 3-hydroxybutyrate, 3-hydroxyisobutyrate, fumarate, pyruvate, 2-hydroxybutyrate, 2-ethyl-3-hydroxypropionate, and 3-methylglutaconate represented the most frequent metabolites observed in PMS urine. We also found novel metabolites, 3-methylglutarate, tiglylglycine and 2-methyl-2,3-dihydroxybutyrate, so far never reported in this disease. Interestingly, patients with a disease onset as PMS evolving overtime into KSS phenotype, presented persistent and more pronounced alterations of organic acid signature than in patients with a pure KSS phenotype. Our study shows that the quantitative analysis of urinary organic acid profile represents a helpful tool for the diagnosis of PMS and for the differential diagnosis with other inherited diseases causing abnormal organic acidurias.
Key words
Full text:
1
Database:
MEDLINE
Main subject:
DNA, Mitochondrial
/
Kearns-Sayre Syndrome
/
Mitochondrial Diseases
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Acyl-CoA Dehydrogenase, Long-Chain
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Lipid Metabolism, Inborn Errors
/
Muscular Diseases
Type of study:
Diagnostic_studies
/
Observational_studies
Limits:
Adolescent
/
Child
/
Child, preschool
/
Humans
/
Infant
Language:
En
Year:
2018
Type:
Article