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Glutaric aciduria type 1: Typical aspects in imaging
1 Department of Radiology Mother and Child, The Children’s Hospital, Mohammed 5 University, Rabat, Morocco
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Hajar Zebbakh
16, MOKHTAR Avenue, Kenitra, Radiology Resident, Department of Radiology Mother and Child, The Children’s Hospital, Mohammed 5 University, Rabat,
Morocco
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Article ID: 100022R02HZ2022
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How to cite this article
Zebbakh H, Diallo I, Lrhorfi N, Alami D, Allali N, Chat L. Glutaric aciduria type 1: Typical aspects in imaging. Edorium J Radiol 2022;8(2):5–9.ABSTRACT
Glutaric aciduria type 1 is an autosomal recessive lysine and tryptophan disorder characterized by glutamic acid and other metabolic by-product accumulation. This disease can be diagnosed in the postnatal period, supported by magnetic resonance imaging (MRI) and confirmed by biochemistry. This article aims to highlight the typical features of this disease in brain MRI which connects frontotemporal atrophy with bilateral and symmetrical signal abnormalities of the brainstem, periventricular white matter, and basal ganglia. As a result, we use two cases to show how this rare disease manifests itself in imaging.
Keywords: Brain magnetic resonance imaging, Glutaric aciduria type 1, Macrocephaly
SUPPORTING INFORMATION
Author Contributions
Hajar Zebbakh - Substantial contributions to conception and design, Acquisition of data, Analysis of data, Interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Ibrahima Diallo - Substantial contributions to conception and design, Drafting the article, Final approval of the version to be published
Najlae Lrhorfi - Acquisition of data, Revising it critically for important intellectual content, Final approval of the version to be published
Dina Alami - Acquisition of data, Drafting the article, Final approval of the version to be published
Nazik Allali - Substantial contributions to conception and design, Revising it critically for important intellectual content, Final approval of the version to be published
Latifa Chat - Acquisition of data, Revising it critically for important intellectual content, Final approval of the version to be published
Guaranter of SubmissionThe corresponding author is the guarantor of submission.
Source of SupportNone
Consent StatementWritten informed consent was obtained from the patient for publication of this article.
Data AvailabilityAll relevant data are within the paper and its Supporting Information files.
Conflict of InterestAuthors declare no conflict of interest.
Copyright© 2022 Hajar Zebbakh et al. This article is distributed under the terms of Creative Commons Attribution License which permits unrestricted use, distribution and reproduction in any medium provided the original author(s) and original publisher are properly credited. Please see the copyright policy on the journal website for more information.
