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 r...

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Published inActa radiologica (1987) Vol. 48; no. 5; p. 557
Main Authors Sonmez, G, Mutlu, H, Ozturk, E, Sildiroglu, H O, Keskin, A T, Basekim, C C, Kizilkaya, E
Format Journal Article
LanguageEnglish
Published England 01.06.2007
Subjects
Adipates - urine
Adult
Amino Acid Metabolism, Inborn Errors - diagnosis
Glutarates - metabolism
Glutarates - urine
Glutaryl-CoA Dehydrogenase - deficiency
Humans
Magnetic Resonance Spectroscopy
Male
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Summary: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.
ISSN:0284-1851
DOI:10.1080/02841850701280874