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Dog hereditary diseases

DSD001
L-2-hydroxyglutaric acidemia
L2HGA
5
Dogs
L-2-hydroxyglutaric aciduria
Hereditary diseases

Description
Hereditary neurometabolic disease associated with increased levels of L-2-hydroxyglutaric acid in urine, plasma and cerebrospinal fluid. The development of the disease, as a rule, occurs between the ages of six months and a year (sometimes later). Often, the disease leads to the death of the animal after numerous debilitating seizures of an epileptic nature. No treatment or therapy is currently described.

Symptoms
The accumulation of L-2-hydroxyglutaric acid in the blood affects the central nervous system, with characteristic clinical signs. Symptoms include seizures, staggering gait, tremors, muscle stiffness from exercise or excitement, and behavioral changes. Symptoms can develop either unexpectedly quickly or gradually. Biochemical blood test for organic acids (hydroxyglutaric acid).

Diagnostics
Characteristic changes in the behavior and physiology of the dog.

  • Autosomal recessive inheritance

    AR
    MM - high risk of developing the disease, will transmit the disease allele to the offspring

    NM - there is no risk of developing a disease associated with this mutation, carrier - can transmit the disease allele to offspring

    NN - there is no risk of developing a disease associated with this mutation, cannot transmit the disease allele to offspring
L2HGDH
N - norm
M - mutation
  • Shorty bull
  • Staffordshire bull terrier

Individual breeds