Acidurie glutarique type 2 (L2HGA)

(Staffordshire Bull Terrier)plus
Disease
autosomal recessive
Heredity
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.
Test duration
TaqMan SNP Assay
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