ArticleThe neuroradiology journal2013
Brain MRI findings as an important diagnostic clue in glutaric aciduria type 1.
Article in The neuroradiology journal, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 35 citations in OpenAlex.
- Inherited Metabolic Causes of Stroke in Children: Mechanisms, Types, and Management.Frontiers in neurology · 2021Pooled it
- Neonatal neurocritical care considerations for prenatally identified neurological disorders.Pediatric research · 2026Review
- Neuroimaging of neonatal brain post therapeutic hypothermia: a practical guide to the non-pediatric neuroradiologist.Frontiers in radiology · 2026Review
- 소아 신경영상에서 보이는 비선천성 원인의 영상 소견: 임상 화보.Journal of the Korean Society of Radiology · 2026Review
- Getting the diagnostic clue, role of MRI in the diagnosis of type 1 Glutaric aciduria in resource-limited settings.Radiology case reports · 2024Article
- Sensorineural Hearing Loss in a Child with Succinic Semialdehyde Dehydrogenase Deficiency.Balkan journal of medical genetics : BJMG · 2023Article
- Diagnostic Approach to Macrocephaly in Children.Frontiers in pediatrics · 2021Review
- Bilateral lesions of the basal ganglia and thalami (central grey matter)-pictorial review.Neuroradiology · 2020Review
- The "crab sign": an imaging feature of spinocerebellar ataxia type 48.Neuroradiology · 2020Observational
- Genomics and Radiogenomics in Inherited Neurometabolic Disorders - A Practical Primer for Pediatricians.Indian journal of pediatrics · 2019Review
- A Case of Mistaken Identity: Glutaric Aciduria Type I Masquerading as Postmeningitic Hydrocephalus.Journal of clinical imaging science · 2018Article
- Audit of Organic Acidurias from a Single Centre: Clinical and Metabolic Profile at Presentation with Long Term Outcome.Journal of clinical and diagnostic research : JCDR · 2017Article
- Clinical and laboratory analysis of late-onset glutaric aciduria type I (GA-I) in Uighur: A report of two cases.Experimental and therapeutic medicine · 2017Article
- [Complex heterogeneity phenotypes and genotypes of glutaric aciduria type 1].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2016Review
- Prenatal Ultrasound and Magnetic Resonance Findings of Glutaric Acidemia Type 1 and Its Challenges in Prenatal Diagnosis.Journal of medical ultrasoundReview
Corrections and comments
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Glutaric aciduria type 1 is an autosomal recessive disorder caused by deficiency of glutaryl-coenzyme A dehydrogenase, with accumulation of glutaric acid, 3-hydroxyglutaric acid and glutaconic acid. Increased blood glutarylcarnitine levels are the basis for identification of affected infants by newborn screening. Despite the highly variability, this disease usually presents with an acute encephalitis-like encephalopathy in infancy or childhood after a period of normal development. The characteristic neurological sequel is a complex movement disorder due to acute bilateral striatal injury. Frequently, the only abnormality preceding the first episode is a progressive macrocephaly. Although neuroimaging findings are quite variable, the widening of the Sylvian fissures combined with abnormalities of the basal ganglia in a child with macrocephaly should raise the suspicion of this diagnosis. We describe two patients in whom macrocephaly was the only presenting symptom and whose diagnosis was suggested by the brain MRI findings. Our purpose is to illustrate the clinical value of neuroimaging in the diagnosis of glutaric aciduria type 1 even before the onset of neurologic symptoms, which is particularly important if newborn screening is not available.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.