fucosidosis

When both parents have the mutation, there is a 25% chance of each child having fucosidosis.

They are also seen in the context of fucosidosis.

All our breeding stock is eye tested, non-carriers of fucosidosis and of good sound temperament.

Deficiency of this enzyme is called Fucosidosis.

All my dogs are regularly eye-tested, are clear of Fucosidosis, are bred to show lines, but will work in the field if required.

At present there is no cure for Fucosidosis, but the gene responsible has been located and research may find a way to treat the patients in the future.

Mutations in the FUCA1 gene causes fucosidosis.

Other lipid storage disorders that are generally not classified as sphingolipidoses include fucosidosis, Schindler disease and Wolman disease.

Deficiency in alpha-l-fucosidase activity is associated with fucosidosis, a lysosomal storage disorder characterised by rapid neurodegeneration, resulting in severe mental and motor deterioration.

Major accumulation of the H-antigen (a member of the ABO blood group antigens), a glycolipid, is seen primarily in the liver of fucosidosis patients.

Just like the human version, canine fucosidosis is a recessive disorder and two copies of the gene must be present, one from each parent, in order to show symptoms of the disease.

In other work in the laboratory we have discovered the mutation causing a lethal disease of both the central nervous system (and other organs including the eye) in the springer spaniel known as fucosidosis.

Because the major accumulating glycoconjugate in fucosidosis patients is the blood group H-antigen, it is intriguing to speculate, but the evidence is not clear at this time, that blood type may affect the course of the disease.

DNA Test for Fucosidosis in English Springer Spaniels The genetic defect underlying fucosidosis in English Springer Spaniels has recently been identified by research groups in the UK and Australia..