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AL2HGDHinitiator methionine codon mutation in a Yorkshire terrier with L-2-hydroxyglutaric aciduria

✍ Scribed by Fabiana HG Farias, Rong Zeng, Gary S Johnson, G D Shelton, Dominique Paquette, Dennis P O’Brien


Book ID
119910343
Publisher
BioMed Central
Year
2012
Tongue
English
Weight
237 KB
Volume
8
Category
Article
ISSN
1746-6148

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We studied 21 patients, from 18 families, with L-2-hydroxyglutaric aciduria (L-2-HGA), a rare neurometabolic disorder with a homogeneous presentation: progressive neurodegeneration with extrapyramidal and cerebellar signs, seizures, and subcortical leukoencephalopathy. Increased levels of L-2-hydrox