Plasma methylcitric acid and its correlations with other disease biomarkers: The impact in the follow up of patients with propionic and methylmalonic acidemia.
Adolescent
Amino Acid Metabolism, Inborn Errors
/ blood
Biomarkers
/ blood
Child
Child, Preschool
Citrates
/ blood
Female
Fibroblast Growth Factors
/ blood
Follow-Up Studies
Humans
Infant
Male
Methylmalonic Acid
/ blood
Organ Transplantation
Predictive Value of Tests
Propionic Acidemia
/ blood
Young Adult
fibroblast growth factor 21
follow-up
methylcitric acid
methylmalonic acidemia
propionic acidemia
transplantation
Journal
Journal of inherited metabolic disease
ISSN: 1573-2665
Titre abrégé: J Inherit Metab Dis
Pays: United States
ID NLM: 7910918
Informations de publication
Date de publication:
11 2020
11 2020
Historique:
received:
18
04
2020
revised:
13
07
2020
accepted:
14
07
2020
pubmed:
19
7
2020
medline:
8
10
2021
entrez:
19
7
2020
Statut:
ppublish
Résumé
Methylcitric acid (MCA) analysis has been mainly utilized for the diagnosis of propionate disorders or as a second-tier test in newborn screening, but its utility for patients monitoring still needs to be established. We explored the potential contribution of MCA in the long-term management of organic acidurias. We prospectively evaluated plasma MCA and its relationship with disease biomarkers, clinical status, and disease burden in 22 patients, 13 with propionic acidemia (PA) and nine with methylmalonic acidemia (MMA) on standard treatment and/or after transplantation. Samples were collected at scheduled routine controls or during episodes of metabolic decompensation (MD), 10 patients were evaluated after transplantation (six liver, two combined liver and kidney, 2 kidney). MCA levels were higher in PA compared to MMA and its levels were not influenced by the clinical status (MD vs well state). In MMA, MCA was higher in elder patients and, along with fibroblast growth factor 21 (FGF21) and plasma methylmalonic acid, negatively correlated with GFR. In both diseases, MCA correlated with ammonia, glycine, lysine, C3, and the C3/C2, C3/C16 ratios. The disease burden showed a direct correlation with MCA and FGF21, for both diseases. All transplanted patients showed a significant reduction of MCA in comparison to baseline values, with some differences dependent on the type of transplantation. Our study provided new insights in understanding the disease pathophysiology, showing similarities between MCA and FGF21 in predicting disease burden, long-term complications and in evaluating the impact of organ transplantation.
Substances chimiques
Biomarkers
0
Citrates
0
2-methylcitric acid
6061-96-7
Fibroblast Growth Factors
62031-54-3
Methylmalonic Acid
8LL8S712J7
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1173-1185Informations de copyright
© 2020 SSIEM.
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