Comment on Zwickler et al.: Usefulness of biochemical parameters in decision‐making on the start of emergency treatment in patients with propionic acidemia

Velden, Monique G.M. de Sain–van der; Ham, Maria van der; Verhoeven‐Duif, Nanda M.; Visser, Gepke; Hasselt, Peter M. van

doi:10.1007/s10545-014-9706-7

Cited by 2 publications

(3 citation statements)

References 2 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Zwickler et al analyzed urinary MCA in MMA and found that the excretion of MCA was significantly increased in patients presenting signs of metabolic decompensation, with no clear-cut differences for other primary disease biomarkers. 5 De Sain-van der Velde et al reported elevation of plasma MCA in PA patients irrespective of their metabolic condition, but found a parallel increase of ammonia and MCA, 11 a finding similar to what reported in the follow-up of 3 PA patients showing a correlation between urinary MCA and blood ammonia. 10 Another study analyzed the DBS concentration of MCA (and the MCA/citric acid ratio) and of methylmalonic acid in two MMA patients, one B12 responsive and the other B12 unresponsive, in relation to treatment initiation.…”

Section: Discussionsupporting

confidence: 66%

“…Correlation analysis between MCA with other metabolic parameters displayed the significant correlation with plasma ammonia levels, a result in line with previous studies, that confirms the perturbation of ammonia metabolism in inherited disorders of propionate. 10,11,14 Furthermore, plasma MCA was also positively correlated with lysine and glycine levels as well as with the changes in acyl-carnitine profile (C3 and C3/C2 and C3/C16 ratios), reflecting the mitochondrial accumulation of propionyl-CoA and the relative depletion of acetyl-CoA.…”

Section: Discussionmentioning

confidence: 92%

“…8,9 Thus far, MCA has been mainly considered a helpful biomarker for diagnosis of inherited disorders of propionate metabolism, but its utility in guiding the adjustment of treatment regimens and in predicting the metabolic status still needs to be established, with only a few works reporting data on urine/plasma MCA in the follow-up of PA and MMA. 5,[10][11][12][13][14][15] In this study, we have prospectively evaluated plasma concentrations of MCA and its correlations with primary and secondary biomarkers, including FGF21, in a large series of PA and MMA patients, on standard treatment and/or after transplantation, to explore the potential contribution of MCA quantification in the long-term management of organic acidemias.…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Plasma methylcitric acid and its correlations with other disease biomarkers: The impact in the follow up of patients with propionic and methylmalonic acidemia

Maines

Catesini

Boenzi

et al. 2020

J of Inher Metab Disea

View full text Add to dashboard Cite

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

show abstract

Section: Discussionsupporting

confidence: 66%

Section: Discussionmentioning

confidence: 92%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Plasma methylcitric acid and its correlations with other disease biomarkers: The impact in the follow up of patients with propionic and methylmalonic acidemia

Maines

Catesini

Boenzi

et al. 2020

J of Inher Metab Disea

View full text Add to dashboard Cite

show abstract

Understanding acute metabolic decompensation in propionic and methylmalonic acidemias: a deep metabolic phenotyping approach

Haijes

Jans

Ham

et al. 2020

Orphanet J Rare Dis

View full text Add to dashboard Cite

Background: Pathophysiology of life-threatening acute metabolic decompensations (AMD) in propionic acidemia (PA) and isolated methylmalonic acidemia (MMA) is insufficiently understood. Here, we study the metabolomes of PA and MMA patients over time, to improve insight in which biochemical processes are at play during AMD. Methods: Longitudinal data from clinical chemistry analyses and metabolic assays over the life-course of 11 PA and 13 MMA patients were studied retrospectively. Direct-infusion high-resolution mass spectrometry was performed on 234 and 154 remnant dried blood spot and plasma samples of PA and MMA patients, respectively. In addition, a systematic literature search was performed on reported biomarkers. All results were integrated in an assessment of biochemical processes at play during AMD. Results: We confirmed many of the metabolite alterations reported in literature, including increases of plasma valine and isoleucine during AMD in PA patients. We revealed that plasma leucine and phenylalanine, and urinary pyruvic acid were increased during AMD in PA patients. 3-hydroxyisovaleric acid correlated positively with plasma ammonia. We found that known diagnostic biomarkers were not significantly further increased, while intermediates of the branched-chain amino acid (BCAA) degradation pathway were significantly increased during AMD. Conclusions: We revealed that during AMD in PA and MMA, BCAA and BCAA intermediates accumulate, while known diagnostic biomarkers remain essentially unaltered. This implies that these acidic BCAA intermediates are responsible for metabolic acidosis. Based on this, we suggest to measure plasma 3-hydroxyisovaleric acid and urinary ketones or 3-hydroxybutyric acid for the biochemical follow-up of a patient's metabolic stability.

show abstract

Comment on Zwickler et al.: Usefulness of biochemical parameters in decision‐making on the start of emergency treatment in patients with propionic acidemia

Cited by 2 publications

References 2 publications

Plasma methylcitric acid and its correlations with other disease biomarkers: The impact in the follow up of patients with propionic and methylmalonic acidemia

Plasma methylcitric acid and its correlations with other disease biomarkers: The impact in the follow up of patients with propionic and methylmalonic acidemia

Understanding acute metabolic decompensation in propionic and methylmalonic acidemias: a deep metabolic phenotyping approach

Contact Info

Product

Resources

About