| L-2-hydroxyglutaric aciduria: two Japanese adult cases in one family. | |
| | |
MedLine Citation:
|
PMID: 10399870 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
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. |
| | |
Authors:
|
J Fujitake; Y Ishikawa; H Fujii; K Nishimura; K Hayakawa; F Inoue; N Terada; M Okochi; Y Tatsuoka |
Publication Detail:
|
Type: Case Reports; Journal Article |
Journal Detail:
|
Title: Journal of neurology Volume: 246 ISSN: 0340-5354 ISO Abbreviation: J. Neurol. Publication Date: 1999 May |
Date Detail:
|
Created Date: 1999-08-24 Completed Date: 1999-08-24 Revised Date: 2004-11-17 |
Medline Journal Info:
|
Nlm Unique ID: 0423161 Medline TA: J Neurol Country: GERMANY |
Other Details:
|
Languages: eng Pagination: 378-82 Citation Subset: IM |
Affiliation:
|
Department of Neurology, Kyoto City Hospital, Kyoto, Japan. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Brain
/
pathology Female Glutarates / blood, cerebrospinal fluid, urine* Humans Japan Magnetic Resonance Imaging Metabolism, Inborn Errors / diagnosis, genetics*, metabolism Middle Aged |
| Chemical | |
Reg. No./Substance:
|
0/Glutarates; 2889-31-8/alpha-hydroxyglutarate |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: The criteria of the International Headache Society for Tolosa-Hunt syndrome need to be revised.
Next Document: Supratentorial atrophy in spinocerebellar ataxia type 2: MRI study of 20 patients.