L-2-hydroxyglutaric aciduria: A case report
Introduction. L-2-Hydroxyglutaric aciduria (L-2-HGA) is an autosomal recessive neurometabolic disease with a slowly progressive course and characterized by increased levels of hydroxyglutaric acid in urine, cerebrospinal fluid and plasma. In this condition clinical features mainly consis...
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| Format: | Article |
| Language: | English |
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Serbian Medical Society
2014-01-01
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| Series: | Srpski Arhiv za Celokupno Lekarstvo |
| Subjects: | |
| Online Access: | http://www.doiserbia.nb.rs/img/doi/0370-8179/2014/0370-81791406337J.pdf |
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| author | Jović Nebojša J. Kosać Ana Koprivšek Katarina |
| author_facet | Jović Nebojša J. Kosać Ana Koprivšek Katarina |
| author_sort | Jović Nebojša J. |
| collection | DOAJ |
| description | Introduction. L-2-Hydroxyglutaric aciduria (L-2-HGA) is an autosomal
recessive neurometabolic disease with a slowly progressive course and
characterized by increased levels of hydroxyglutaric acid in urine,
cerebrospinal fluid and plasma. In this condition clinical features mainly
consist of mental deterioration, ataxia and motor deficits. Case Outline. The
patient is a 16-year-old girl, the first and only child of healthy,
non-consanguineous parents of Serbian origin. At the age of 4 years her walk
became unsteady and ataxic. Other signs of cerebellar involvement were soon
observed. Head circumference was above two standard deviations (55 cm). Mild
mental retardation was revealed by formal intelligence testing (IQ 60). MR
examination of the brain showed confluent subcortical white matter lesions
spread centripetally, and atrophy of the cerebellar vermis with involvement
of dentate nuclei, without deep white matter abnormalities. Laboratory
investigation revealed increased amounts and a very large peak of HGA in
urine and plasma. Enantiomeric analysis confirmed the L-configuration (>90%)
establishing the diagnosis of L-2-HGA. The first epileptic seizure, partial
with secondary generalization, occurred at age of 8 years. Favorable seizure
control was achieved. A slow progression of neurological impairment was
noted. Therapeutic trials with oral coenzyme Q10 and with oral riboflavin
showed no biochemical and clinical effects. Recently, the diagnosis was
proven by the presence of a mutation in the L-2-HGA gene. Conclusion. To our
knowledge, this is the first report of L-2-HGA in Serbia. L-2-HGA must be
considered in the differential diagnosis based on specific findings in
cranial MRI. |
| first_indexed | 2024-12-16T11:10:51Z |
| format | Article |
| id | doaj.art-49111945731d491fb045567c6f1d0052 |
| institution | Directory Open Access Journal |
| issn | 0370-8179 |
| language | English |
| last_indexed | 2024-12-16T11:10:51Z |
| publishDate | 2014-01-01 |
| publisher | Serbian Medical Society |
| record_format | Article |
| series | Srpski Arhiv za Celokupno Lekarstvo |
| spelling | doaj.art-49111945731d491fb045567c6f1d00522022-12-21T22:33:45ZengSerbian Medical SocietySrpski Arhiv za Celokupno Lekarstvo0370-81792014-01-011425-633734110.2298/SARH1406337J0370-81791406337JL-2-hydroxyglutaric aciduria: A case reportJović Nebojša J.0Kosać Ana1Koprivšek Katarina2Clinic of Neurology and Psychiatry for Children and Youth, Belgrade + School of Medicine, BelgradeClinic of Neurology and Psychiatry for Children and Youth, BelgradeOncology Institute of Vojvodina, Imaging Diagnostic Center, Sremska KamenicaIntroduction. L-2-Hydroxyglutaric aciduria (L-2-HGA) is an autosomal recessive neurometabolic disease with a slowly progressive course and characterized by increased levels of hydroxyglutaric acid in urine, cerebrospinal fluid and plasma. In this condition clinical features mainly consist of mental deterioration, ataxia and motor deficits. Case Outline. The patient is a 16-year-old girl, the first and only child of healthy, non-consanguineous parents of Serbian origin. At the age of 4 years her walk became unsteady and ataxic. Other signs of cerebellar involvement were soon observed. Head circumference was above two standard deviations (55 cm). Mild mental retardation was revealed by formal intelligence testing (IQ 60). MR examination of the brain showed confluent subcortical white matter lesions spread centripetally, and atrophy of the cerebellar vermis with involvement of dentate nuclei, without deep white matter abnormalities. Laboratory investigation revealed increased amounts and a very large peak of HGA in urine and plasma. Enantiomeric analysis confirmed the L-configuration (>90%) establishing the diagnosis of L-2-HGA. The first epileptic seizure, partial with secondary generalization, occurred at age of 8 years. Favorable seizure control was achieved. A slow progression of neurological impairment was noted. Therapeutic trials with oral coenzyme Q10 and with oral riboflavin showed no biochemical and clinical effects. Recently, the diagnosis was proven by the presence of a mutation in the L-2-HGA gene. Conclusion. To our knowledge, this is the first report of L-2-HGA in Serbia. L-2-HGA must be considered in the differential diagnosis based on specific findings in cranial MRI.http://www.doiserbia.nb.rs/img/doi/0370-8179/2014/0370-81791406337J.pdfhydroxyglutaric aciduriaepilepsywhite matter lesionsataxia |
| spellingShingle | Jović Nebojša J. Kosać Ana Koprivšek Katarina L-2-hydroxyglutaric aciduria: A case report Srpski Arhiv za Celokupno Lekarstvo hydroxyglutaric aciduria epilepsy white matter lesions ataxia |
| title | L-2-hydroxyglutaric aciduria: A case report |
| title_full | L-2-hydroxyglutaric aciduria: A case report |
| title_fullStr | L-2-hydroxyglutaric aciduria: A case report |
| title_full_unstemmed | L-2-hydroxyglutaric aciduria: A case report |
| title_short | L-2-hydroxyglutaric aciduria: A case report |
| title_sort | l 2 hydroxyglutaric aciduria a case report |
| topic | hydroxyglutaric aciduria epilepsy white matter lesions ataxia |
| url | http://www.doiserbia.nb.rs/img/doi/0370-8179/2014/0370-81791406337J.pdf |
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