L2HGA - L-2-Hydroxyglutaric Aciduria/Staffordshire Bull Terrier

Neuromuscular dysfunction

Description: 
Neurometabolic disorder characterised by elevated level of L-2-hydroxyglutaric acid in urine, plasma and cerebrospinal fluid
Symptomes: 
Seizures, "wobbly" gait, tremors, muscle stiffness, dementia
Age d'aparition: 
From the age of 6 months
Fréquence: 
8%
Gène impliqué: 
L2HGDH
Mutation testée: 
c.1297T>C and c.1299C>T
Transmission: 
Autosomal Recessive
Brevet: 
_
Remarques: 
_