L-2-hydroxyglutaric aciduria (L-2-HGA)

LABOKLIN Service ID: 8125

L-2-HGA (L-2-hydroxyglutaric aciduria) is a neurometabolic disorder characterised by elevated levels of L-2-hydroxyglutaric acid in urine, plasma and cerebrospinal fluid. L-2-HGA affects the central nervous system, with clinical signs usually apparent between 6 months and one year (although they can appear later). L-2-HGA produces a variety of neurological deficits, including psychomotor retardation, seizures and ataxia. Symptoms are "wobbly" gait, tremors, muscle stiffness as a result of exercise or excitement and altered behaviour.

Method	TaqMan SNP assay (Staffordshire Bull Terrier); sequencing (Yorkshire Terrier)
Breed list	Staffordshire Bull Terrier, Yorkshire Terrier
Heredity	autosomal recessive
Duration	3-5 days after arrival of the sample in the lab (Staffordshire Bull Terrier); 1-2 weeks after arrival of the sample in the lab (Yorkshire Terrier)