A successfully treated adult patient with L-2-hydroxyglutaric aciduria.
Samuraki
M
M
Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Science, 13-1, Takara-machi, Kanazawa, 920-8640, Japan.
Komai
K
K
Hasegawa
Y
Y
Kimura
M
M
Yamaguchi
S
S
Terada
N
N
Yamada
M
M
D000328:Adult; D000367:Age Factors; D000429:Alcohol Oxidoreductases / Q000235:genetics* / Q000652:urine; D001921:Brain / Q000201:enzymology / Q000473:pathology / Q000503:physiopathology; D001928:Brain Diseases, Metabolic / Q000188:drug therapy* / Q000235:genetics / Q000503:physiopathology; D020739:Brain Diseases, Metabolic, Inborn / Q000188:drug therapy* / Q000235:genetics / Q000503:physiopathology; D002331:Carnitine / Q000627:therapeutic use; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D005260:Female; D005182:Flavin-Adenine Dinucleotide / Q000627:therapeutic use; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008607:Intellectual Disability / Q000188:drug therapy / Q000235:genetics / Q000503:physiopathology; D008239:Lysine / Q000378:metabolism*; D008279:Magnetic Resonance Imaging; D009069:Movement Disorders / Q000188:drug therapy / Q000235:genetics / Q000503:physiopathology; D016896:Treatment Outcome
D005819:Genetic Markers; D005182:Flavin-Adenine Dinucleotide; D000429:Alcohol Oxidoreductases; C506763:L2HGDH protein, human; D008239:Lysine; D002331:Carnitine