Current issue
Archive
About the Journal
About us
Aims and Scope
Indexing and Abstracting
Editorial Office
Open Access Policy
Publication Ethics
Contact
For Authors
Editorial Policy
Peer Review Policy
Manuscript Preparation Guidelines
Copyright & Licensing
Publication Fees
Fast-Track Paper Publication Option
Conflict Interest Guidance
Submit an Article
Special Issues
News & Editorials
“Fake,” “Predatory,” and “Pseudo” Journals: Charlatans Threatening Trust in Science
Shifting the Journal submission-review system to the Editorial System Manuscript December 27, 2017.
CASE REPORT
A Case report on aneurometabolic disorder: Glutaric aciduria type I
1
Department of pediatric endocerinology, Mashhad university of medical sciences, Mashhad, Iran
Online publication date: 2018-07-15
Publication date: 2019-04-22
Electron J Gen Med 2019;16(2):em117
KEYWORDS
ABSTRACT
Glutaric aciduria type I is caused by an autosomal recessive inherited deficiency of glutaryl-CoA dehydrogenase, which gives rise to the glutaric acid and 3-hydroxyglotoric acidase as well as gluturyl carnitine in body fluid.efected patient can present with macrocephaly and acute dystonia secondry to striatal degeneration following infection and vaccination between 6 and 18 month. Here in, we reported five cases with macrocephaly, dystonia diagnosed with glutaric aciduria type I using the typical brain imaging and tandem mass spectrometry.
REFERENCES (7)
1.
Hoffmann GF, Trefz FK, Barth PG, et al. Glutaryl-coenzyme A dehydrogenase deficiency: a distinct encephalopathy. Pediatrics. 1991 Dec;88(6):1194-203. PMid:1956737.
2.
Superti-Furga A, Hoffmann GF. Glutaric aciduria type 1 (glutaryl-CoA-dehydrogenase deficiency): advances and unanswered questions. Report from an international meeting. Eur J Pediatr. 1997 Nov;156(11):821-8. https://doi.org/10.1007/s00431... PMid:9392391.
3.
Baric I, Zschocke J, Christensen E, et al. Diagnosis and management of glutaric aciduria type I. J Inherit Metab Dis. 1998 Jun;21(4):326-40. https://doi.org/10.1023/A:1005... PMid:9700590.
4.
Pusti S, Das N, Nayek K, et al. A treatable neurometabolic disorder: glutaric aciduria type 1. Case Rep Pediatr. 2014;2014:256356. https://doi.org/10.1155/2014/2....
5.
Pfluger T, Weil S, Muntau A, et al. Glutaric aciduria type I: a serious pitfall if diagnosed too late. Eur Radiol. 1997;7(8):1264-6. https://doi.org/10.1007/s00330... PMid:9377513.
6.
Altman NR, Rovira MJ, Bauer M. Glutaric aciduria type 1: MR findings in two cases. AJNR Am J Neuroradiol. 1991 Sep-Oct;12(5):966-8. PMid:1950930.
| eISSN: | 2516-3507 |
We process personal data collected when visiting the website. The function of obtaining information about users and their behavior is carried out by voluntarily entered information in forms and saving cookies in end devices. Data, including cookies, are used to provide services, improve the user experience and to analyze the traffic in accordance with the Privacy policy. Data are also collected and processed by Google Analytics tool (more).
You can change cookies settings in your browser. Restricted use of cookies in the browser configuration may affect some functionalities of the website.
You can change cookies settings in your browser. Restricted use of cookies in the browser configuration may affect some functionalities of the website.
