ReviewJournal of inherited metabolic disease
Neonatal screening for glutaric aciduria type I: strategies to proceed.
Review in Journal of inherited metabolic disease. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 46 citations in OpenAlex.
- L-carnitine modulates molecular responses associated with inflammation, endoplasmic reticulum stress, and neurotrophic signaling in cerebral cortex of neonatal GcdhMetabolic brain disease · 2026Article
- Enhanced differentiation between 3-hydroxyglutaric and 2-hydroxyglutaric acids facilitates diagnostic testing for glutaric aciduria type 1.JIMD reports · 2024Article
- Evaluation of the Clinical, Biochemical, Neurological, and Genetic Presentations of Glutaric Aciduria Type 1 in Patients From China.Frontiers in genetics · 2021Article
- Newborn Screening Programmes in Europe, Arguments and Efforts Regarding Harmonisation: Focus on Organic Acidurias.JIMD reports · 2017Article
- Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision.Journal of inherited metabolic disease · 2017Review
- Web-based newborn screening system for metabolic diseases: machine learning versus clinicians.Journal of medical Internet research · 2013Article
- Brain MRI findings as an important diagnostic clue in glutaric aciduria type 1.The neuroradiology journal · 2013Article
- Diagnosis and management of glutaric aciduria type I--revised recommendations.Journal of inherited metabolic disease · 2011Review
- Newborn screening healthcare information system based on service-oriented architecture.Journal of medical systems · 2010Article
- False-positive newborn screening mimicking glutaric aciduria type I in infants with renal insufficiency.Journal of inherited metabolic disease · 2009Article
- Outcome of three cases of untreated maternal glutaric aciduria type I.European journal of pediatrics · 2008Article
- Maternal glutaric acidemia, type I identified by newborn screening.Molecular genetics and metabolism · 2008Article
- Quality performance of newborn screening systems: strategies for improvement.Journal of inherited metabolic disease · 2007Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Acute encephalopathic crisis in glutaric aciduria type I results in an unfavourable disease course and poor outcome, dominated by dystonia, feeding problems, seizures and reduced life expectancy. A conditio sine qua non for the prevention of irreversible brain damage is timely diagnosis and start of therapy, i.e. before the onset of neurological disease. As there are no specific clinical signs or symptoms that allow a reliable detection of these patients before the manifestation of encephalopathic crises, neonatal screening programmes for glutaric aciduria type I have been established in some countries using analysis of glutarylcarnitine in dried blood spots by tandem mass spectrometry. This article summarizes recent strategies, pitfalls and shortcomings of mass screening for glutaric aciduria type I, focusing on the relevant risk of missing patients with a mild biochemical phenotype (i.e. low excretors). Furthermore, it evaluates a binary strategy--using glutarylcarnitine as primary variable and glutarylcarnitine/acylcarnitine ratios as secondary variable--to improve the diagnostic sensitivity and specificity of neonatal screening for glutaric aciduria type I. An optimization of diagnostic as well as therapeutic procedures must be achieved before screening for glutaric aciduria type I can be regarded as reliable and beneficial for all patients.
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