L-2-hydroxyglutaric aciduria (L2HGA)
L-2-hydroxyglutaric aciduria (L2HGA)
General description
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 produces a variety of neurological deficits, including psychomotor retardation, seizures and ataxia.
Breeds
Staffordshire Bull Terrier, Yorkshire Terrier
Order details
| Test number | 8125 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Test specifications
| Inheritance | autosomal recessive |
Detailed description
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.
