Clinical, biochemical and neuroradiological findings in L-2-hydroxyglutaric aciduria

I. Moroni, L. D'Incerti, L. Farina, M. Rimoldi, G. Uziel

Research output: Contribution to journalArticlepeer-review

Abstract

L-2-Hydroxyglutaric aciduria is a rare inborn error of metabolism, marked by a large and persistent increase of L-2-hydroxyglutaric acid in urine, blood and cerebrospinal fluid (CSF). We present clinical, biochemical and neuroradiological findings of seven Italian patients aged 4-19 years presenting at different stages of the disease. The disorder was characterized by a progressive neurological syndrome with cerebellar and pyramidal signs, mental deterioration, epilepsy and subcortical leukoencephalopathy on magnetic resonance imaging (MRI). We observed a good correlation between the severity of the disease and the extent of lesions on MRI. We report the result of the first positive prenatal diagnosis.

Original languageEnglish
Pages (from-to)103-108
Number of pages6
JournalNeurological Sciences
Volume21
Issue number2
Publication statusPublished - 2000

Keywords

  • L-2-hydroxyglutaric aciduria
  • Leukodystrophy
  • Magnetic resonance imaging

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

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