L-2-hydroxyglutaric aciduria: two Japanese adult cases in one family

We report two adult Japanese sisters with L-2-hydroxy-glutaric aciduria (acidemia), both of whom were much older (aged 57, 47 years old) than previously reported patients (from neonate to 44 years old), and who presented with differing severity. Magnetic resonance imaging revealed typical subcortica...

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Bibliographic Details
Published in:Journal of neurology 1999-05, Vol.246 (5), p.378-382
Main Authors: Fujitake, J, Ishikawa, Y, Fujii, H, Nishimura, K, Hayakawa, K, Inoue, F, Terada, N, Okochi, M, Tatsuoka, Y
Format: Article
Language:English
Subjects:
Brain - pathology
Female
Glutarates - blood
Glutarates - cerebrospinal fluid
Glutarates - urine
Humans
Japan
Magnetic Resonance Imaging
Metabolism, Inborn Errors - diagnosis
Metabolism, Inborn Errors - genetics
Metabolism, Inborn Errors - metabolism
Middle Aged
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Summary:We report two adult Japanese sisters with L-2-hydroxy-glutaric aciduria (acidemia), both of whom were much older (aged 57, 47 years old) than previously reported patients (from neonate to 44 years old), and who presented with differing severity. Magnetic resonance imaging revealed typical subcortical white matter lesions in both cases and showed brainstem atrophy and thickness of the calvarium in the elder sister. L-2-Hydroxyglutaric acid levels were increased in urine, plasma, and cerebrospinal fluid. These cases suggest that organic acid analysis is necessary even in elderly patients who seem to have neurodegenerative disorders.
ISSN:0340-5354
DOI:10.1007/s004150050367