Magnetic resonance imaging findings of adult-onset glutaric aciduria type I.
Glutaric aciduria or glutaric acidemia type I, an autosomal recessive disease, usually presents with an acute encephalopathic crisis in young children. We report the magnetic resonance (MR) and proton MR spectroscopy (MRS) imaging findings of a previously healthy 20-year-old man who presented with recurrent headaches. Organic acids from the patient's urine contained large amounts of adipate, glutarate, and 3-hydroxyglutarate consistent with glutaric aciduria type I.
Sonmez
G
G
Department of Radiology, GATA Haydarpasa Teaching Hospital, Istanbul, Turkey.
Mutlu
H
H
Ozturk
E
E
Sildiroglu
H O
HO
Keskin
A T
AT
Basekim
C C
CC
Kizilkaya
E
E
D000272:Adipates / Q000652:urine; D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis*; D005977:Glutarates / Q000378:metabolism* / Q000652:urine; D050770:Glutaryl-CoA Dehydrogenase / Q000172:deficiency*; D006801:Humans; D009682:Magnetic Resonance Spectroscopy; D008297:Male
C108959:3-hydroxyglutaric acid; D000272:Adipates; D005977:Glutarates; C029900:adipic acid; D050770:Glutaryl-CoA Dehydrogenase; C035736:glutaric acid