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l-2-Hydroxyglutaric aciduria: two Japanese adult cases in one family

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Abstract

We report two adult Japanese sisters with l-2-hydroxyglutaric 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.

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Authors and Affiliations

  1. Department of Neurology, Kyoto City Hospital, 1-2 Higashitakada-cho, Mibu, Nakagyo-ku, Kyoto 604-8845, Japan Tel.: +81-75-3115311, Fax: +81-75-3216025, , , , , , JP

    J. Fujitake, Yasuhiro Ishikawa, Hayato Fujii & Yoshihisa Tatsuoka

  2. Department of Radiology, Kyoto city Hospital, 1-2 Higashitakada-cho, Mibu, Nakagyo-ku, Kyoto 604-8845, Japan, , , , , , JP

    Kazumasa Nishimura & Katsumi Hayakawa

  3. Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan, , , , , , JP

    Fumio Inoue, Naoto Terada & Masakazu Okochi

Authors
  1. J. Fujitake
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  2. Yasuhiro Ishikawa
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  3. Hayato Fujii
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  4. Kazumasa Nishimura
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  5. Katsumi Hayakawa
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  6. Fumio Inoue
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  7. Naoto Terada
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  8. Masakazu Okochi
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  9. Yoshihisa Tatsuoka
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Additional information

Received: 6 May 1998 Received in revised form: 11 August 1998 Accepted: 5 October 1998

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Fujitake, J., Ishikawa, Y., Fujii, H. et al. l-2-Hydroxyglutaric aciduria: two Japanese adult cases in one family. J Neurol 246, 378–382 (1999). https://doi.org/10.1007/s004150050367

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  • DOI: https://doi.org/10.1007/s004150050367

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