L-2-hydroxyglutaric aciduria in two female Yorkshire terriers.
J Am Anim Hosp Assoc
; 48(5): 366-71, 2012.
Article
em En
| MEDLINE
| ID: mdl-22843824
ABSTRACT
Two female Yorkshire terrier puppies were presented with generalized tonic-clonic seizures and ataxia. MRI revealed bilaterally symmetrical, diffuse regions of gray matter hyperintensity on T2-weighted and fluid-attenuated inversion recovery sequences. Urinary organic acids were quantified by gas chromatography-mass spectroscopy and were consistent with a diagnosis of L-2-hydroxyglutaric aciduria (L2HGA). The L2HGDH gene encodes for the enzyme L-2-hydroxyglutarate dehydrogenase, which helps break down L-2-hydroxyglutaric acid. In both puppies described in this report, a homozygous mutation at the translation initiation codon of the homolog canine L2HGDH gene was detected (c.1A>G; p.Met1?), confirming the diagnosis of L2HGA at the DNA level. Canine L2HGA is caused by more than one mutation of L2HGDH, as reported in humans.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Encefalopatias Metabólicas Congênitas
/
Oxirredutases do Álcool
/
Doenças do Cão
Tipo de estudo:
Diagnostic_studies
Limite:
Animals
Idioma:
En
Ano de publicação:
2012
Tipo de documento:
Article