title: L-2-hydroxyglutaric aciduria: report of two Indian families.
abstract: L-2-Hydroxyglutaric aciduria (L-2-HGA) is a rare type of organic acidemia that has characteristic neurological manifestations including macrocephaly, developmental delay, epilepsy and cerebellar ataxia. Worldwide, few hundred cases of L-2-HGA are reported till date. The authors report the first three cases of L-2-HGA from two Indian families. Pertinent clinical aspects of this rare neurometabolic disorder namely, lack of acute exacerbations, and predisposition to brain tumors, are highlighted. In the present series, all cases had infantile onset of symptoms in the form of global developmental delay, seizures and cerebellar ataxia without extra-pyramidal signs or macrocephaly. One child presented as acute febrile encephalopathy which has not been described as a presenting feature.
authors.affiliation: Child Development Clinic, KLES Prabhakar Kore Hospital, Belgaum, Karnataka, India, drmaheshkamate@gmail.com.
authors.forename: Mahesh
authors.initials: M
authors.lastname: Kamate
authors.forename: Gowda Parameshwar
authors.initials: GP
authors.lastname: Prashanth
authors.forename: Virupaxi
authors.initials: V
authors.lastname: Hattiholi
mesh_terms: D000293:Adolescent; D020739:Brain Diseases, Metabolic, Inborn; D002648:Child; D005260:Female; D006801:Humans; D008297:Male
references.citation: Neurology. 2008 Mar 25;70(13):1051-2
references.pmid: 18362286
references.citation: AJNR Am J Neuroradiol. 2012 May;33(5):940-3
references.pmid: 22241392
references.citation: Hum Mol Genet. 2004 Nov 15;13(22):2803-11
references.pmid: 15385440
references.citation: Brain Dev. 1997 Jun;19(4):268-73
references.pmid: 9187477
references.citation: Pediatr Res. 1994 May;35(5):614-6
references.pmid: 8065847
references.citation: Hum Mutat. 2010 Apr;31(4):380-90
references.pmid: 20052767
references.citation: Eur J Paediatr Neurol. 2009 Jan;13(1):57-60
references.pmid: 18343698
references.citation: Radiology. 2009 Jun;251(3):856-65
references.pmid: 19474378
references.citation: J Inherit Metab Dis. 2012 Jul;35(4):571-87
references.pmid: 22391998