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Identification of undescribed medium-chain acylcarnitines present in urine of patients with propionic and methylmalonic acidemias

✍ Scribed by Raymond Libert; François Van Hoof; Marc Thillaye; Marie-Françoise Vincent; Marie-Cécile Nassogne; Edmond de Hoffmann; Andre Schanck

Book ID: 117073926
Publisher: Elsevier Science
Year: 2000
Tongue: English
Weight: 273 KB
Volume: 295
Category: Article
ISSN: 0009-8981
DOI: 10.1016/s0009-8981(00)00195-9

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The identification of (E)-2-methylglutaconic acid, a 'new' metabolite of isoleucine, is described. The substance was detected in urine samples from patients with propionic acidaemia, methylmalonic acidaemia and so-called P-ketothiolase deficiency; in the majority of cases together with N-tiglylglyci