The detail information of Lysosomal storage diseases
Basic Information

Disease Description: A group of progressive multifocal neurologic disorders caused by specific enzyme deficiencies leading to death of nerve cells and accumulation of their respective enzyme substrates in cells

Inherit Mode: Where inheritance has been determined, it is autosomal recessive.

Disease Symptom: These disorders, fortunately rare, are devastating. Pups are normal at birth and then gradually (most commonly before 1 year of age) develop signs of neurologic disease. Their demeanor, behaviour and motor abilities are affected to varying degrees depending on the disorder, but the condition always worsens until the dog dies or is euthanized, usually within 6 months of the first signs.

Disease Cause: -

Disease Diagnose: These conditions are difficult to diagnose, both because they are very uncommon and because the clinical signs are often vague (eg.depression, behaviour change). Generally the routine diagnostic tests your veterinarian will carry out will show no abnormalities. Once a lysosomal storage disease is suspected, your veterinarian will submit a blood sample for specific diagnostic tests which are now available for many of these disorders. These tests measure blood levels of the particular enzyme involved, and many can detect carriers of the disorder (who have about 50 per cent normal enzyme levels) as well as affected dogs. For those disorders in which the specific genetic defect has been identified, it is likely that before long there will be a DNA test that can be used to differentiate normal, carrier, and affected dogs.

Treat Method: Unfortunately there is no treatment available for these disorders, which can only be controlled by good breeding programmes. As gene therapies emerge, they will likely first be developed for these conditions, many of which are controlled by a single gene and involve a single defective enzyme.

Breeder Advice: Affected animals and their parents (carriers of the defective gene) should not be bred. Siblings are suspect carriers and should only be used for breeding if a screening test has been carried out, showing that they are not carriers. In this way, these devastating diseases can be greatly reduced or eliminated from the breeds in which they occur.

Disease Description Source: Link

Associated Diseases
Disease Name Other Name Mode of inheritance Link ID Possible OMIM ID Gene
Lysosomal storage disease - - - -
Associated Breeds
iDog Breed Number Breed Name Personality Height Weight Breed Source
CB4 Akita Dignified, courageous, and profoundly loyal to their humans 66-71.1 cm (male), 61-66 cm (female) 45.4-59 kg (male), 31.8-45.4 kg (female) Japan
CB15 Australian Cattle Dog Alert, curious, and pleasant 45.7-50.8 cm (male), 43.2-48.3 cm (female) 15.9-22.7 kg Australia
CB25 Bearded Collie Bouncy, charismatic, friendly; smart, but also stubborn and independent 53.3-55.9 cm (male), 50.8-53.3 cm (female) 20.4-24.9 kg United Kingdom (Scotland)
CB41 Boerboel(South African Mastiff) Smart, dominant, protective, confident; loving with family, especially kids 61-68.6 cm (male), 55.9-63.5 cm (female) 68-90.7 kg South Africa
CB61 Canaan Dog Alert, vigilant, territorial; docile with family, aloof with strangers 50.8-61 cm (male), 48.3-58.4 cm (female) 20.4-24.9 kg (male), 15.9-20.4 kg (female) Middle East Lebanon - Israel
CB78 Cocker Spaniel Happy, smart, gentle 36.8-39.4 cm (male), 34.3-36.8 cm (female) 11.3-13.6 kg (male), 9.1-11.3 kg (female)
CB85 Dandie Dinmont Terrier Independent, proud, smart; affectionate at home, bold and tenacious in the field 20.3-27.9 cm 8.2-10.9 kg United Kingdom (Scotland)
CB97 English Springer Spaniel Friendly, playful, obedient at home; hardworking and steady in the field 50.8 cm (male), 48.3 cm (female) 22.7 kg (male), 18.1 kg (female) United Kingdom (England)
CB98 English Toy Spaniel Affectionate, Alert, Merry 22.9-25.4 cm 3.6-6.4 kg England
CB111 German Short-Haired Pointer Friendly, smart, willing to please 58.4-63.5 cm (male), 53.3-58.4 cm (female) 24.9-31.8 kg (male), 20.4-27.2 kg (female) Germany
CB112 German Spitz Devoted, Lively, Attentive 12-15 inches 24-26 pounds Germany
CB161 Miniature Schnauzer Friendly, smart, obedient 30.5-35.6 cm 5-9.1 kg Germany
CB194 Portuguese Water Dog Affectionate, Adventurous, Athletic 50.8-58.4 cm (male), 43.2-53.3 cm (female) 19.1-27.2 kg (male), 15.9-22.7 kg (female) Portugal
CB195 Pudelpointer Friendly, Smart, Willing to Please 22-26 inches 45-70 pounds Germany
CB209 Saluki Gentle, dignified, loyal but independent-minded 58.4-71.1 cm (male), considerably smaller (female) 18.1-29.5 kg Fertile Crescent
CB222 Skye Terrier Plucky but dignified, calm but sometimes stubborn; famously loyal and devoted 25.4 cm (male), 24.1 cm (female) 15.9-20.4 kg (male), slightly lighter (female) United Kingdom (Scotland)
CB264 American Bulldog Gentle, loving family companion who is fearless enough to face an angry bull or a human intruder 55.9-68.6 cm (male), 50.8 to 63.5 cm (female) 34-45.5kg(male),27.2-36.3kg(female) United States
CB268 Miniature Poodle Intelligent, Eager-to-please , Charming companion 25-38 cm 4.5-6.8kg France&Germany
CB270 Toy Poodle Intelligent, eager to please, quick to learn and an affectionate, loyal pet. under 25 cm
References
1999 Ackerman, L. :
The Genetic Condition: A Guide to Health Problems in Purebred Dogs AAHA Press. Lakewood, Colorado. pp 103-107
1996 March, P.A. :
Degenerative brain disease Vet. Clin. of N.A. Small Animal Practice 26(4): 945-971
1975 Rac,R.,Giesecke,P.R.: :
Lysosomal storage disease in Chihuahuas Australian Veterinary Journal 51:403-404, 1975.
Pubmed reference: 1191142 .