Abstract
L-2-Hydroxyglutaric aciduria (L-2-HGA) is a rare organic aciduria with a slowly progressive
course regarding CNS involvement. We present a 13.5-year-old female patient who presented
at the Emergency Department with a generalized status epilepticus, which promptly
responded to intravenous phenytoin. CT and MRI demonstrated subcortical white matter
alterations. The neurological examination revealed mild mental retardation, macrocephaly
and ataxic gait with cerebellar signs. Repeated urinary organic acid analysis demonstrated
increased excretion of 2-hydroxyglutaric acid which was of the L-configuration. The
constellation of macrocephaly in a patient with mental retardation, cerebellar tract
involvement and subcortical white matter signal alterations on MRI should alert the
physician to the possibility of L-2-HGA. Although rare, epileptic seizures or even
status epilepticus can be among the presenting symptoms in organic acidurias with
a slow course, such as L-2-HGA.
Keywords
To read this article in full you will need to make a payment
Purchase one-time access:
Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online accessOne-time access price info
- For academic or personal research use, select 'Academic and Personal'
- For corporate R&D use, select 'Corporate R&D Professionals'
Subscribe:
Subscribe to Brain and DevelopmentAlready a print subscriber? Claim online access
Already an online subscriber? Sign in
Register: Create an account
Institutional Access: Sign in to ScienceDirect
References
- L-2-Hydroxyglutaric aciduria: a novel inherited neurometabolic disease.Ann Neurol. 1992; 32: 66-71
- L-2-Hydroxyglutaric aciduria: clinical and biochemical findings in 12 patients and preliminary report on L-2-hydroxyglutaric dehydrogenase.J Inherit Metab Dis. 1993; 16: 753-761
- L-2-Hydroxyglutaric aciduria: two further cases.J Inherit Metab Dis. 1993; 16: 505-507
- L-2-Hydroxyglutaric aciduria: three Australian cases.J Inherit Metab Dis. 1993; 16: 501-504
- L-2-Hydroxyglutaric aciduria: neuropathological correlations and first report of severe neurodegenerative disease and neonatal death.J Inherit Metab Dis. 1996; 19: 335-343
- Macrocephaly as the presenting feature of L-2-hydroxyglutaric aciduria in a 5-month old boy.J Inherit Metab Dis. 1996; 19: 369-370
- L-2-Hydroxyglutaric aciduria: clinical heterogeneity versus biochemical homogeneity in a sibship.Neuropediatrics. 1997; 28: 314-317
- L-2-Hydroxyglutaric aciduria: clinical, biochemical and magnetic resonance imaging in six Portuguese pediatric patients.Brain Dev. 1997; 19: 268-273
- L-2-Hydroxyglutaric aciduria: MRI in seven cases.Neuroradiology. 1998; 40: 727-733
- Chiral compounds in metabolism: a look in the molecular mirror.Eur J Pediatr. 1998; 157: 185-191
- L-2-Hydroxyglutarate dehydrogenase: identification of a novel enzyme activity in rat and human liver. Implications for L-2-hydroxyglutaric acidemia.Biochim Biophys Acta. 1993; 1225: 53-56
Article info
Publication history
Accepted:
February 26,
2001
Received in revised form:
February 26,
2001
Received:
September 5,
2000
Identification
Copyright
© 2001 Elsevier Science B.V. Published by Elsevier Inc. All rights reserved.
