Glutaric aciduria type I: A treatable neurometabolic disorder.

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 Neurol

authors

Kamate M,Patil V,Chetal V,Darak P,Hattiholi V

doi

10.4103/0972-2327.93273

subject

Has Abstract

pub_date

2012-01-01 00:00:00

pages

31-4

issue

1

eissn

0972-2327

issn

1998-3549

pii

AIAN-15-31

journal_volume

15

pub_type

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