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

Orphanet Journal of Rare Diseases
Hanneke A HaijesNanda M Verhoeven-Duif

Abstract

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. 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. 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 br...Continue Reading

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May 24, 2019·Journal of Inherited Metabolic Disease·Hanneke A HaijesNanda M Verhoeven-Duif
May 24, 2019·Journal of Inherited Metabolic Disease·Hanneke A HaijesPeter M van Hasselt

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Citations

Oct 30, 2020·Orphanet Journal of Rare Diseases·Anna CaciottiAmelia Morrone
Mar 21, 2021·Molecular Genetics and Metabolism·Allison J ArmstrongRobert A Figler
Aug 15, 2021·Clinica Chimica Acta; International Journal of Clinical Chemistry·Chao WangChunquan Cai
Oct 22, 2021·Journal of Inherited Metabolic Disease·Vivian LehmannSabine A Fuchs

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