Download PDF
Journal of Pediatric Neurology 2022; 20(03): 218-223
DOI: 10.1055/s-0041-1731773
Case Report

Screening for Inherited Metabolic Disorders by Tandem Mass Spectrometry May Miss L-2 Hydroxy Glutaric Aciduria: A Report of Two Cases

Dipti Baskar
1   Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, Karnataka, India
,
Saraswati Nashi
1   Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, Karnataka, India
,
Srijithesh Rajendran P.
1   Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, Karnataka, India
,
Gautham Arunachal
2   Department of Human Genetics, National Institute of Mental Health and Neurosciences, Bangalore, Karnataka, India
,
Rita Christopher
3   Department of Neuro-Biochemistry, National Institute of Mental Health and Neurosciences, Bangalore, Karnataka, India
,
Girish B. Kulkarni
1   Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, Karnataka, India
,
Survarna Alladi
1   Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, Karnataka, India
› Author Affiliations
› Further Information
    Permissions and Reprints

Abstract

L-2 hydroxy glutaric aciduria (L-2HGA) is an autosomal recessive neurometabolic disorder. It is characterized by a variety of clinical features and typical radiological features which aids in diagnosis. We report two cases that presented with unexplained intellectual impairment and seizures. Magnetic resonance imaging (MRI) brain showed characteristic features of L-2HGA. Tandem mass spectrometry was negative in both cases. Genetic analysis was done based on typical imaging features which confirmed the diagnosis of L-2HGA. For patients with unexplained developmental delay and typical MRI features, a high degree of suspicion is necessary to confirm the diagnosis with targeted genetic analysis.

Keywords

L-2 hydroxy glutaric aciduria - seizures - status dystonicus - tandem mass spectrometry


Publication History

Received: 24 March 2021

Accepted: 29 May 2021

Article published online:
19 July 2021

© 2021. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

  • References

  • 1 Van Schaftingen E, Rzem R, Veiga-da-Cunha M. L: -2-hydroxyglutaric aciduria, a disorder of metabolite repair. J Inherit Metab Dis 2009; 32 (02) 135-142
    CrossrefPubMedGoogle Scholar
  • 2 Kranendijk M, Struys EA, Salomons GS, Van der Knaap MS, Jakobs C. Progress in understanding 2-hydroxyglutaric acidurias. J Inherit Metab Dis 2012; 35 (04) 571-587
    CrossrefPubMedGoogle Scholar
  • 3 Duran M, Kamerling JP, Bakker HD, van Gennip AH, Wadman SK. L-2-Hydroxyglutaric aciduria: an inborn error of metabolism?. J Inherit Metab Dis 1980; 3 (04) 109-112
    CrossrefPubMedGoogle Scholar
  • 4 Steenweg ME, Jakobs C, Errami A. et al. An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study. Hum Mutat 2010; 31 (04) 380-390
    CrossrefPubMedGoogle Scholar
  • 5 Seijo-Martínez M, Navarro C, del Río MC. et al. L-2-hydroxyglutaric aciduria: clinical, neuroimaging, and neuropathological findings. Arch Neurol 2005; 62 (04) 666-670
    CrossrefPubMedGoogle Scholar
  • 6 Steenweg ME, Salomons GS, Yapici Z. et al. L-2-hydroxyglutaric aciduria: pattern of MR imaging abnormalities in 56 patients. Radiology 2009; 251 (03) 856-865
    CrossrefPubMedGoogle Scholar
  • 7 Samuraki M, Komai K, Hasegawa Y. et al. A successfully treated adult patient with L-2-hydroxyglutaric aciduria. Neurology 2008; 70 (13) 1051-1052
    CrossrefPubMedGoogle Scholar
  • 8 Topçu M, Aydin OF, Yalçinkaya C. et al. L-2-hydroxyglutaric aciduria: a report of 29 patients. Turk J Pediatr 2005; 47 (01) 1-7
    PubMedGoogle Scholar
  • 9 Muthusamy K, Sudhakar SV, Christudass CS, Chandran M, Thomas M, Gibikote S. Clinicoradiological spectrum of L-2-hydroxy glutaric aciduria: typical and atypical findings in an Indian cohort. J Clin Imaging Sci 2019; 9: 3
    CrossrefPubMedGoogle Scholar
  • 10 Fujitake J, Ishikawa Y, Fujii H. et al. L-2-hydroxyglutaric aciduria: two Japanese adult cases in one family. J Neurol 1999; 246: 378-382
    CrossrefPubMedGoogle Scholar
  • 11 Goffette SM, Duprez TP, Nassogne MC. et al. L-2-hydroxyglutaric aciduria: clinical, genetic, and brain MRI characteristics in two adult sisters. Eur J Neurol 2006; 13: 499-504
    CrossrefPubMedGoogle Scholar
  • 12 Termsarasab P, Frucht SJ. Writer's cramp as a presentation of L-2-hydroxyglutaric aciduria. J Clin Mov Disord 2014; 1 (01) 9
    CrossrefPubMedGoogle Scholar