TITLE

L-2-hydroxyglutaric Aciduria in Two Female Yorkshire Terriers

AUTHOR(S)
Sanchez-Masian, Daniel F.; Artuch, Rafael; Mascort, Joan; Jakobs, Corlenis; Salomons, Gajja; Zamora, Angeles; Casado, Mercedes; Fernandez, Matilde; Lujan, Alejandro; Recio, Alfredo
PUB. DATE
September 2012
SOURCE
Journal of the American Animal Hospital Association;Sep/Oct2012, Vol. 48 Issue 5, p366
SOURCE TYPE
Academic Journal
DOC. TYPE
Case Study
ABSTRACT
The article describes the case of two female Yorkshire terriers presenting with L-2-hydroxyglutaric Aciduria (L2HGDH). The condition is said to be caused by more than one mutation of L2HGDH, similar to human reports. Diagnosis was made possible following the quantification of urinary organic acids via gas chromatography-mass spectroscopy. The L2HDGH gene encodes for the enzyme L-2-hydroxyglutarate dehydrogenase, which assists in the breakdown of L-2-hydroxyglutaric acid.
ACCESSION #
79817407

 

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