L-2-hydroxyglutaric aciduria diagnosed in an adult presenting with acute deterioration.
Saidha
Shiv
S
Murphy
Sinead
S
McCarthy
Peter
P
Mayne
Philip D
PD
Hennessy
Michael
M
D000328:Adult; D001259:Ataxia / Q000175:diagnosis / Q000188:drug therapy / Q000652:urine; D001921:Brain / Q000473:pathology; D018450:Disease Progression; D004827:Epilepsy / Q000175:diagnosis / Q000188:drug therapy / Q000652:urine; D005977:Glutarates / Q000652:urine*; D006801:Humans; D008239:Lysine / Q000378:metabolism; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000188:drug therapy* / Q000473:pathology / Q000652:urine; D035583:Rare Diseases / Q000175:diagnosis / Q000188:drug therapy / Q000652:urine; D012640:Seizures / Q000175:diagnosis / Q000188:drug therapy / Q000652:urine
D005977:Glutarates; C019417:alpha-hydroxyglutarate; D008239:Lysine