Search results for: 'DOG-PRA-PRCD'

Glycogen storage disease is a severe genetic disorder of glycogen metabolism, causing glycogen accumulation mainly in the liver. Affected dogs show severe hepatomegaly, fasting hypoglycemia, failure to thrive, and may progress to coma and death.
The G6PC gene mutation strongly reduces enzyme activity, disrupting the production of glucose from glucose-6-phosphate.
Histologically, the liver shows vacuolated hepatocytes filled with glycogen.

The curly coat is caused by a mutation in the Keratin-71 (KRT71) gene. The test can be performed for any breed but is particularly relevant for the following breeds: Airedale Terrier, Bichon Frise, Havanese, Maltese, Border Collie, Chesapeake Bay Retriever, Chihuahua, Dachshund, Leonberger, Portuguese Water Dog, Welsh Terrier, Wire Fox Terrier. This test is not valid for the Golden Retriever.

The locus D or dilution refers to a mutation in the MLPH gene that causes a diluted coat colour. This mutation dilutes black to blue, chocolate to lilac and yellow to champagne. The mutation tested is the d^1 mutation. For the breeds Chow Chow, Sloughi and Thai Ridgeback, the test to be performed is the DOG-LOCUS-D-CHOW test.

Pyruvate kinase is an essential enzyme for energy production in red blood cells. Clinical signs are anaemia, weakness, hepatosplenomegaly. Bone marrow and liver failure usually occur before the age of 5 years. Heterozygous animals (healthy carriers) show no clinical signs, but have reduced levels of pyruvate kinase activity. Bone marrow transplants have been used to alleviate clinical signs in affected dogs.

Pyruvate kinase is an essential enzyme for energy production in red blood cells. Clinical signs are anaemia, weakness, hepatosplenomegaly. Bone marrow and liver failure usually occur before the age of 5 years. Heterozygous animals (healthy carriers) show no clinical signs, but have reduced levels of pyruvate kinase activity. Bone marrow transplants have been used to alleviate clinical signs in affected dogs.

Pyruvate kinase is an essential enzyme for energy production in red blood cells. Clinical signs are anaemia, weakness, hepatosplenomegaly. Bone marrow and liver failure usually occur before the age of 5 years. Heterozygous animals (healthy carriers) show no clinical signs, but have reduced levels of pyruvate kinase activity. Bone marrow transplants have been used to alleviate clinical signs in affected dogs.

Pyruvate kinase is an essential enzyme for energy production in red blood cells. Clinical signs are anaemia, weakness, hepatosplenomegaly. Bone marrow and liver failure usually occur before the age of 5 years. Heterozygous animals (healthy carriers) show no clinical signs, but have reduced levels of pyruvate kinase activity. Bone marrow transplants have been used to alleviate clinical signs in affected dogs.

Laryngeal paralysis (LP) in Bull Terriers and Miniature Bull Terriers is a genetic disorder that prevents the dog from abducting the arytenoid cartilages during inspiration, leading to partial airway obstruction and breathing difficulties. Clinical signs include reduced exercise tolerance, progressive laryngeal stridor, and episodes of respiratory distress. In these two breeds, the tested genetic variant is a risk factor for early-onset LP.

Hypomyelination, also known as Shaking pup syndrome, is a disorder of the nervous system caused by a defect in the myelination of the spinal cord. Affected dogs show tremors, walking difficulties, balance and coordination problems. This disease is transmitted in an X-linked recessive manner, so males carrying the mutation will all be affected. However, only females with 2 copies of the mutated allele will be affected.

Pompe disease (glycogen storage disease type II) is a genetic disorder that disrupts glucose metabolism, leading to excessive glycogen accumulation in the body. Affected dogs develop progressive muscle weakness, cardiac hypertrophy, and may present with megaesophagus accompanied by regurgitation and vomiting. This disease often causes severe cardio-respiratory complications and typically leads to premature death around 18 months of age.