ArticleJournal of inherited metabolic disease2014
Usefulness of biochemical parameters in decision-making on the start of emergency treatment in patients with propionic acidemia.
Article in Journal of inherited metabolic disease, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision.Journal of inherited metabolic disease · 2021Guideline
- Propionic Acidemia: Gray Matter Disease Meets Subcortical Leukodystrophy.Journal of inherited metabolic disease · 2025Article
- Interorgan amino acid interchange in propionic acidemia: the missing key to understanding its physiopathology.Amino acids · 2022Observational
- A novel small molecule approach for the treatment of propionic and methylmalonic acidemias.Molecular genetics and metabolism · 2021Article
- Long-term follow-up with filter paper samples in patients with propionic acidemia.JIMD reports · 2021Article
- Dual mRNA therapy restores metabolic function in long-term studies in mice with propionic acidemia.Nature communications · 2020Article
- Biochemical and anaplerotic applications of in vitro models of propionic acidemia and methylmalonic acidemia using patient-derived primary hepatocytes.Molecular genetics and metabolism · 2020Article
- Understanding acute metabolic decompensation in propionic and methylmalonic acidemias: a deep metabolic phenotyping approach.Orphanet journal of rare diseases · 2020Article
- Propionic and Methylmalonic Acidemias: Initial Clinical and Biochemical Presentation.International journal of pediatrics · 2020Article
- Experimental evidence that maleic acid markedly compromises glutamate oxidation through inhibition of glutamate dehydrogenase and α-ketoglutarate dehydrogenase activities in kidney of developing rats.Molecular and cellular biochemistry · 2019Article
- The liver is a metabolic and immunologic organ: A reconsideration of metabolic decompensation due to infection in inborn errors of metabolism (IEM).Molecular genetics and metabolism · 2017Review
- Methylmalonic and propionic acidemias: clinical management update.Current opinion in pediatrics · 2016Review
- Clinical experience with N-carbamylglutamate in a single-centre cohort of patients with propionic and methylmalonic aciduria.Molecular genetics and metabolism reports · 2016Article
- The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.Journal of inherited metabolic disease · 2015Article
- Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.Orphanet journal of rare diseases · 2014Review
- Comment on Zwickler et al.: Usefulness of biochemical parameters in decision-making on the start of emergency treatment in patients with propionic acidemia.Journal of inherited metabolic disease · 2014Article
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6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundRecurrent acute and life-threatening metabolic decompensations are thought to be the major cause of mortality and morbidity in patients with propionic acidemia (PA). Since metabolic decompensations in these patients usually develop gradually, there is considerable uncertainty about the beginning and when emergency treatment should be initiated. The major aim of this study was to evaluate the usefulness of biochemical parameters for improving decision-making on the start of emergency treatment.
methodsWe analysed data of 16 PA patients continuously followed in our centre. Metabolic decompensation was defined clinically by the occurrence of at least one of three alarming symptoms: vomiting, food refusal or impaired consciousness. Thirty-eight biochemical parameters were analysed.
resultsA total of 259 metabolic decompensations were documented and compared with 625 routine visits. Among the symptoms used to clinically define metabolic decompensations, vomiting was most frequent (87 %). In total, 19 biochemical parameters differentiated between metabolic decompensations and routine visits. Among them ammonia, acid-base balance and anion gap were most reliable to identify a metabolic decompensation, and to estimate its severity. A comparative analysis of patients with PA and methylmalonic acidemia during metabolic decompensation showed similar results.
conclusionsAmmonia, acid-base balance and anion gap are important biochemical parameters to identify an (impending) metabolic decompensation and to assess its severity in PA patients. The identified biochemical parameters should be integrated in an algorithm for clinical decision-making on emergency treatment and should be tested in a prospective trial.
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