What is globoid cell leukodystrophy in dogs?
Globoid cell leukodystrophy (terrier type) is an inherited Lysosomal Storage Disorder affecting dogs. Affected dogs are normal at birth but at about 6 to 22 weeks of age, these dogs show signs of muscle weakness and uncoordinated movement.
What are Globoid cells?
Globoid cell leukodystrophy is a genetic sphingolipidosis that results in central and peripheral demyelination, and is a classic example of a lysosomal storage disease, as the GALC enzyme is no longer functioning to degrade psychosine, leading to its accumulation (Graziano and Cardile 2014).
What is dog leukodystrophy?
Leukodystrophies in dogs, a rare condition, relates to loss of the fatty substance called myelin that coats nerve cells and protects the normal conduction of the nerve impulses. Vet bills can sneak up on you.
What is the function of Galactocerebrosidase?
The galactocerebrosidase enzyme contributes to the maintenance of a functional hematopoietic stem cell niche.
What causes adrenoleukodystrophy?
ALD is an X-linked recessive condition caused by a mutation in the ABCD1 gene on the X chromosome. Because a female has two X chromosomes, if she inherits the faulty gene, then she still has another X chromosome to offset the mutation.
What is Krabbes disease?
Krabbe (KRAH-buh) disease is an inherited disorder that destroys the protective coating (myelin) of nerve cells in the brain and throughout the nervous system. In most cases, signs and symptoms of Krabbe disease develop in babies before 6 months of age, and the disease usually results in death by age 2.
Where is Galactocerebrosidase found?
Within cells, galactosylceramidase is found in enzyme-filled sacs called lysosomes where it hydrolyzes specific galactolipids, including galactosylceramide and psychosine.
Is leukodystrophy painful?
Symptoms of metachromatic leukodystrophy may include seizures, personality changes, spasticity, progressive dementia, painful paresthesias, motor disturbances progressing to paralysis, and/or visual impairment leading to blindness.
Is Alexander disease always fatal?
Alexander disease is an extremely rare, usually progressive and fatal, neurological disorder. Initially it was detected most often during infancy or early childhood, but as better diagnostic tools have become available has been found to occur with similar frequency at all stages of life.
How is Krabbes disease diagnosed?
A genetic test may be done with a blood sample to confirm a diagnosis. There are variant forms of the mutated gene that results in Krabbe disease. The particular type of mutation may provide some clues regarding the expected course of the disease.
How is leukodystrophy diagnosed?
Generally, a diagnosis of leukodystrophy is made based on medical and family health history, physical and neurological examinations, imaging scans such as magnetic resonance imaging (MRI) or computed tomography (CT), and other laboratory tests.