Fucosidosis (Fuco)
- Canine Fucosidosis is a severe, progressive disorder that affects the nervous system. It progresses over a few months, sometimes from an early age. In affected dogs, the enzyme alpha-L-fucosidase is absent, one of the enzymes required to help break complex compounds into simple molecules. This causes the pathway to get blocked, and toxic compounds build up in the dog’s cells. The cells in the nervous system are sensitive to these toxins. The disease is progressive and ultimately fatal. It affects dogs between 18 months and 4 years. Signs include incoordination and loss of movement, change in temperament and loss of learned behaviour, balance, deafness and visual impairment, as well as varying levels of depression.
- Affect Breeds: English Springer Spaniel
Imerslun-Gräsbeck syndrome/cobalamin malabsorption (IGS)
- This condition results in vitamin B12 not being properly absorbed in the small intestine. B12 is vital for normal cell growth and works in conjunction with iron and folic acid to ensure the nervous system functions properly. It usually appears early in a dog’s life, presenting with a loss of appetite and lack of energy. Puppies with the disorder will struggle to grow normally. Affected dogs can also develop anaemia (reduced numbers of red blood cells), which will cause puppies to become weak and less able to exercise.
- Affected Dogs: Australian Shepherd, Beagle, Border Collie, Giant Schnauzer, Miniature American Shepherd, Miniature Australian Shepherd, Toy Australian Shepherd
L2-hydroxyglutaric aciduria (L2-HGA)
- This is a neurometabolic disorder, a metabolic disorder affecting the nervous system. It presents with elevated levels of L-2-hydroxyglutaric acid in urine, plasma and cerebrospinal fluid. Typically, signs present at 6 months to a year old, although they can start later. Signs are epileptic seizures, unstable gait, tremors and muscle stiffness after exercise or excitement.
- Affected Breeds: American Bully, Staffordshire Bull Terrier, West Highland White Terrier, Yorkshire Terrier.
Pituitary Dwarfism (DP-Lhx3)
- This is a genetic condition resulting in a lack of growth hormone. It’s called Pituitary Dwarfism as the hormone is produced by the Pituitary gland. This condition isn’t noticeable at birth, but the affected puppies won’t grow correctly and can die young. Affected dogs will appear puppy-like due to their appearance and will retain their puppy coat, but can develop hair loss and have issues with tooth development.
- Affected Breeds: Czechoslovakian Wolfdog, German Shepherd Dog, Saarloos Wolfdog, Tibetan Terrier, Toy Poodle, White Swiss Shepherd Dog
Phosphofructokinase deficiency (PFK)
- PFK affects the red blood cells and muscle cells. Affected dog’s have a lack of the phosphofructokinase enzyme, which means the red blood cells and muscle cells aren’t able to produce enough energy for their needs. It results in the dog having weakness, lethargy, uninterest in exercise, muscle cramps, anaemia, jaundice and dark urine. Dark urine is the main marker for the disease and usually appears after heavy exercise or after excessive barking, panting or heat exposure.
- Affected Breeds: American Cocker Spaniel, Cockapoo, English Springer Spaniel, English Cocker Spaniel, Whippet
Glycogen storage disease II (GSDII)
- GSDII is a condition where the enzyme glucose-6-phosphatase, a vital part of glucose production is deficient. In affected dogs this leads to chronic low blood sugar levels, liver damage and early death. Dogs present with weakness, chronic low blood sugar, collapse, lethargy, and liver anorexia. Its present from birth. With type 2 dogs will also vomit frequently, have progressive muscle weakness poor body condition, and cardiac enlargement. Affected Dogs don’t tend to live past 2 years old.
- Affected Breeds: Finnish Lapphund, Lapponian Herder, Maltese, Swedish Lapphund.
Pyruvate Dehydrogenase phosphates (PDP-1)
- PDP1 is a metabolic disorder. The enzyme pyruvate dehydrogenase phosphatase 1 (PDP1) is essential for cell metabolization – converting food to energy for cells. It presents with exercise intolerance and post exercise collapse as well as possible neurological signs.
- Affected Breeds: Clumber Spaniel, Sussex Spaniel
