Literature DB >> 24323445

Teaching neuroimages: infant with glutaric aciduria type 1 presenting with infantile spasms and hypsarrhythmia.

Nichole Young-Lin1, Sarah Shalev, Orit A Glenn, Marisa Gardner, Chung Lee, Anthony Wynshaw-Boris, Amy A Gelfand.   

Abstract

A 7-month-old boy with glutaric aciduria type 1 (GA1) presented with 1 week of clustered flexor spasms. Examination revealed mild axial hypotonia without encephalopathy. Video-EEG monitoring revealed hypsarrhythmia and infantile spasms (figure, A). MRI showed acute basal ganglia injury (figure, B). After 3 weeks of prednisolone treatment, 5-month follow-up showed continued resolution of hypsarrhythmia and spasms.

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Year:  2013        PMID： 24323445      PMCID： PMC3863345          DOI： 10.1212/01.wnl.0000437291.75075.53

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  2 in total

1.  Teaching NeuroImages: Glutaric aciduria type 1 (glutaryl-CoA dehydrogenase deficiency).

Authors:  Paramdeep Singh; Jatinder Singh Goraya; Archana Ahluwalia; Kavita Saggar
Journal:  Neurology       Date:  2011-07-05       Impact factor: 9.910

Review 2.  Diagnosis and management of glutaric aciduria type I--revised recommendations.

Authors:  Stefan Kölker; Ernst Christensen; James V Leonard; Cheryl R Greenberg; Avihu Boneh; Alberto B Burlina; Alessandro P Burlina; Marjorie Dixon; Marinus Duran; Angels García Cazorla; Stephen I Goodman; David M Koeller; Mårten Kyllerman; Chris Mühlhausen; Edith Müller; Jürgen G Okun; Bridget Wilcken; Georg F Hoffmann; Peter Burgard
Journal:  J Inherit Metab Dis       Date:  2011-03-23       Impact factor: 4.982
  2 in total
  3 in total

Review 1.  Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision.

Authors:  Nikolas Boy; Chris Mühlhausen; Esther M Maier; Jana Heringer; Birgit Assmann; Peter Burgard; Marjorie Dixon; Sandra Fleissner; Cheryl R Greenberg; Inga Harting; Georg F Hoffmann; Daniela Karall; David M Koeller; Michael B Krawinkel; Jürgen G Okun; Thomas Opladen; Roland Posset; Katja Sahm; Johannes Zschocke; Stefan Kölker
Journal:  J Inherit Metab Dis       Date:  2016-11-16       Impact factor: 4.982

2.  Glutaric Aciduria Type 1: A Case Report and Review of Literature.

Authors:  Sidaraddi Sanju; Milind S Tullu; Nithya Seshadri; Mukesh Agrawal
Journal:  J Pediatr Intensive Care       Date:  2020-04-17

3.  Evaluation of the Clinical, Biochemical, Neurological, and Genetic Presentations of Glutaric Aciduria Type 1 in Patients From China.

Authors:  Huishu E; Lili Liang; Huiwen Zhang; Wenjuan Qiu; Jun Ye; Feng Xu; Zhuwen Gong; Xuefan Gu; Lianshu Han
Journal:  Front Genet       Date:  2021-07-07       Impact factor: 4.599
  3 in total

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