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 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.
Fujitake
J
J
Department of Neurology, Kyoto City Hospital, Kyoto, Japan.
Ishikawa
Y
Y
Fujii
H
H
Nishimura
K
K
Hayakawa
K
K
Inoue
F
F
Terada
N
N
Okochi
M
M
Tatsuoka
Y
Y
D001921:Brain / Q000473:pathology; D005260:Female; D005977:Glutarates / Q000097:blood / Q000134:cerebrospinal fluid / Q000652:urine*; D006801:Humans; D007564:Japan; D008279:Magnetic Resonance Imaging; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D008875:Middle Aged
D005977:Glutarates; C019417:alpha-hydroxyglutarate