title: Glutaric aciduria type I: A treatable neurometabolic disorder.
abstract: OBJECTIVE
  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.
  
  
  METHODS
  The present study was a retrospective study.
  
  
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Pediatrics, KLE University's J N Medical College, Belgaum, Karnataka State, India.
authors.forename: Mahesh
authors.initials: M
authors.lastname: Kamate
authors.forename: Vishwanath
authors.initials: V
authors.lastname: Patil
authors.forename: Vivek
authors.initials: V
authors.lastname: Chetal
authors.forename: Pavan
authors.initials: P
authors.lastname: Darak
authors.forename: Virupaxi
authors.initials: V
authors.lastname: Hattiholi