Abstract:
BACKGROUND AND OBJECTIVES:Glutaric aciduria Type-I (GA-I) has characteristic clinical and neuroimaging features, which clinches the diagnosis in a majority of patients. However, there have been few case reports on GA-I from India. This study was undertaken to study the clinical presentations, metabolic profile, neuroimaging findings and outcome of patients with GA-I. STUDY DESIGN:The present study was a retrospective study. MATERIALS AND METHODS:Retrospective review of charts of patients with a diagnosis of GA-I was carried out from March 2008 to April 2010. The clinical, laboratory and neuroimaging findings were extracted in a predesigned proforma and the data was analyzed. RESULTS:Eleven cases were found to have GA-1. Clinical presentation was quite varied. Follow-up of patients revealed that one patient with macrocephaly as the only clinical finding was developmentally normal. One patient with encephalitis-like illness steadily improved and started walking at 2 years. Two patients were bed ridden and had severe dystonia. One patient died during follow-up. The remaining six patients had dystonia and other abnormal movements, but had attained sitting without support and were not ambulatory. CONCLUSION:GA-I is not an uncommon disorder and diagnosis can be made easily based on clinical, laboratory investigations and neuroimaging findings. It is one of the treatable metabolic disorders and, if managed appropriately, favorable prognosis can be given.
journal_name
Ann Indian Acad Neuroljournal_title
Annals of Indian Academy of Neurologyauthors
Kamate M,Patil V,Chetal V,Darak P,Hattiholi Vdoi
10.4103/0972-2327.93273subject
Has Abstractpub_date
2012-01-01 00:00:00pages
31-4issue
1eissn
0972-2327issn
1998-3549pii
AIAN-15-31journal_volume
15pub_type
杂志文章abstract::We describe a young patient of acute transverse myelitis (ATM) who developed true lower motor neuron (LMN) type flaccid paraplegia as a result of anterior horn cell damage in the region of cord inflammation that extended from conus upwards up to the D4 transverse level. We infer that flaccidity in acute phase of ATM i...
journal_title:Annals of Indian Academy of Neurology
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journal_title:Annals of Indian Academy of Neurology
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journal_title:Annals of Indian Academy of Neurology
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journal_title:Annals of Indian Academy of Neurology
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journal_title:Annals of Indian Academy of Neurology
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journal_title:Annals of Indian Academy of Neurology
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journal_title:Annals of Indian Academy of Neurology
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journal_title:Annals of Indian Academy of Neurology
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更新日期:2016-01-01 00:00:00
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journal_title:Annals of Indian Academy of Neurology
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journal_title:Annals of Indian Academy of Neurology
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journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
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更新日期:2013-07-01 00:00:00
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journal_title:Annals of Indian Academy of Neurology
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journal_title:Annals of Indian Academy of Neurology
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doi:10.4103/0972-2327.194413
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journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章,评审
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journal_title:Annals of Indian Academy of Neurology
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journal_title:Annals of Indian Academy of Neurology
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journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
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更新日期:2014-01-01 00:00:00
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journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/aian.AIAN_448_17
更新日期:2018-07-01 00:00:00
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journal_title:Annals of Indian Academy of Neurology
pub_type:
doi:10.4103/0972-2327.41880
更新日期:2008-04-01 00:00:00
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journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/0972-2327.128655
更新日期:2014-03-01 00:00:00
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journal_title:Annals of Indian Academy of Neurology
pub_type:
doi:10.4103/0972-2327.40227
更新日期:2008-01-01 00:00:00
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journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/0972-2327.138508
更新日期:2014-07-01 00:00:00
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journal_title:Annals of Indian Academy of Neurology
pub_type:
doi:10.4103/0972-2327.165467
更新日期:2016-04-01 00:00:00
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journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
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更新日期:2016-10-01 00:00:00
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journal_title:Annals of Indian Academy of Neurology
pub_type:
doi:10.4103/0972-2327.176866
更新日期:2016-04-01 00:00:00