Magnetic resonance imaging findings of adult-onset glutaric aciduria type I

Autor:	AT Keskin, Esref Kizilkaya, Guner Sonmez, Hakan Mutlu, Huseyin Onur Sildiroglu, Ersin Ozturk, C. Cinar Basekim
Rok vydání:	2007
Předmět:	Adult Male congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty Magnetic Resonance Spectroscopy Adipates Encephalopathy Glutarates Central nervous system disease Nuclear magnetic resonance Internal medicine medicine Humans Radiology Nuclear Medicine and imaging Amino Acid Metabolism Inborn Errors Glutaric acidemia type I Recurrent headaches Glutaryl-CoA Dehydrogenase Radiological and Ultrasound Technology medicine.diagnostic_test business.industry Glutaric aciduria nutritional and metabolic diseases Magnetic resonance imaging General Medicine medicine.disease Proton mr spectroscopy Endocrinology business
Zdroj:	Acta Radiologica. 48:557-559
ISSN:	1600-0455 0284-1851
DOI:	10.1080/02841850701280874
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::666551f68e7a0021fb5ee21cba2559c3 https://doi.org/10.1080/02841850701280874 Zobrazit plný text záznamu