Gene involved L2HGDH
Mutation tested c.1297T>C et c.1299C>T
Transmission mode : Autosomal recessive
Publication : Penderis et al. (2007). L_2_hydroxyglutaric aciduria: characterisation of the molecular defect in a spontaneous canine model.
Gene involved L2HGDH
Mutation tested c.1A>G
Transmission mode : Autosomal recessive
Publication :
Farias et al. (2012). A L2HGDH initiator methionine codon mutation in a Yorkshire terrier with L-2-hydroxyglutaric aciduria.
Sanchez-Masian et al. (2012). L-2-hydroxyglutaric aciduria in two female Yorkshire terriers.