ArticleMetabolomics : Official journal of the Metabolomic Society2018
Urinary metabolic profiling of asymptomatic acute intermittent porphyria using a rule-mining-based algorithm.
Article in Metabolomics : Official journal of the Metabolomic Society, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 7 citations in OpenAlex.
- Therapy Follows Diagnosis: Old and New Approaches for the Treatment of Acute Porphyrias, What We Know and What We Should Know.Diagnostics (Basel, Switzerland) · 2022Review
- Evaluation of Metabolic Changes in Acute Intermittent Porphyria Patients by Targeted Metabolomics.International journal of molecular sciences · 2022Article
- Cutting-Edge Therapies and Novel Strategies for Acute Intermittent Porphyria: Step-by-Step towards the Solution.Biomedicines · 2022Review
- Mechanisms of Neuronal Damage in Acute Hepatic Porphyrias.Diagnostics (Basel, Switzerland) · 2021Review
- Profiling of Serum Metabolites of Acute Intermittent Porphyria and Asymptomatic HMBS Mutation Carriers.Cells · 2021Article
- Feasibility of cellular bioenergetics as a biomarker in porphyria patients.Molecular genetics and metabolism reports · 2019Article
Corrections and comments
- Erratum issued
Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionMetabolomic profiling combines Nuclear Magnetic Resonance spectroscopy with supervised statistical analysis that might allow to better understanding the mechanisms of a disease.
objectivesIn this study, the urinary metabolic profiling of individuals with porphyrias was performed to predict different types of disease, and to propose new pathophysiological hypotheses.
methodsUrine
resultsOur rule-mining algorithm generated results were consistent with those obtained using partial least square discriminant analysis (PLS-DA) and the predictive performance of the model was significant. Buckets that were identified by the algorithm corresponded to metabolites involved in glycolysis and energy-conversion pathways, notably acetate, citrate, and pyruvate, which were found in higher concentrations in the urines of aAIP compared with PCT patients. Metabolic profiling did not discriminate sPCT from fPCT patients.
conclusionThese results suggest that metabolic reprogramming occurs in aAIP individuals, even in the absence of overt symptoms, and supports the relationship that occur between heme synthesis and mitochondrial energetic metabolism.
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Registered trials
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