ArticleEuropean journal of pediatrics2014
Malonic aciduria: long-term follow-up of new patients detected by newborn screening.
Article in European journal of pediatrics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
7 citing papers in PubMed, 17 citations in OpenAlex.
- Case report: A novel 5'-UTR-exon1-intron1 deletion in MLYCD in an IVF child with malonyl coenzyme A decarboxylase deficiency and literature review.Frontiers in medicine · 2023Article
- Heterogenous Clinical Landscape in a Consanguineous Malonic Aciduria Family.International journal of molecular sciences · 2021Article
- Cardiac Complications of Propionic and Other Inherited Organic Acidemias.Frontiers in cardiovascular medicine · 2020Review
- Follow-up status during the first 5 years of life for metabolic disorders on the federal Recommended Uniform Screening Panel.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- Expanded Newborn Screening Using Tandem Mass Spectrometry: Seven Years of Experience in Eastern Sicily.International journal of neonatal screening · 2018Article
- A novel frameshift mutation of malonyl-CoA decarboxylase deficiency: clinical signs and therapy response of a late-diagnosed case.Clinical case reports · 2017Article
- Quantitative acylcarnitine determination by UHPLC-MS/MS--Going beyond tandem MS acylcarnitine "profiles".Molecular genetics and metabolism · 2015Article
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
unlabelledMalonic aciduria is an extremely rare autosomal recessive inborn error of metabolism. We present clinical, biochemical and genetic information for several years of follow-up of new malonic aciduria patients who were diagnosed by newborn screening. These data are discussed with regard to treatment options and possible diagnostic pitfalls. The cases presented here show that the course of malonic aciduria is unpredictable and can even significantly differ in two siblings harbouring identical mutations. Early treatment can lead to the rapid improvement of cardiomyopathy in the course of malonic aciduria. Biochemical parameters seem to be variable and can intermittently be undetectable in the blood or urine samples of affected patients. Therefore, confirmatory tests following a positive newborn screening should be taken with caution and include both malonyl carnitine detection in dried blood spots and urinary organic acid analysis as initial measures.
conclusionPatients with a suspected or confirmed diagnosis of malonic aciduria should undergo thorough diagnostic procedures and be regularly screened for complications such as cardiomyopathy even when they are asymptomatic in order to ensure early therapy of treatable complications.
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Registered trials
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