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. Diagnosis
Diagnosis: A special urine test is available to check for any partially broken-down-sugars. If they are present, a skin or blood sample will be taken to test for below-normal amounts of alpha-fucosidase.- Fucosidosis is an autosomal recessive disorder, which means that both parents have to have the mutation and pass it on to the child. When both parents have the mutation, there is a 25% chance of each child having fucosidosis. Type 1
Type 1 usually begins somewhere in the first three to 18 months of age and in considered the most severe of the three types. Symptoms include:

Coarse facial features
Enlarged liver, spleen, and/or heart
Intellectual disability
Seizures
Abnormal bone formation of many bones
Progressive deterioration of brain and spinal cord
Increased or decreased perspirationPatients have no vascular lesions, but have rapid psychomotor regression, severe and rapidly progressing neurologic signs, elevated sodium and chloride excretion in the sweat, and fatal outcome before the sixth year. Type 2
Type 2 appears when a child is around 18 months of age and in considered milder than Type 1 but still severe. Symptoms include:
Symptoms similar to Type 1 but milder and progress more slowly. Type 3
Type 3 appears around 1–2 years of age and is considered mild. Treatment
Treatment: There is no treatment or way to reverse the disease. Treatment will focus on the symptoms an individual has, such as seizure medication.
It is possible that if an individual receives a bone marrow transplant, they could receive healthy bone marrow cells which would produce normal amounts of fucosidase. But there not is enough research to prove this is an effective treatment. History
Fucosidosis is an extremely rare disorder first described in 1962 in two Italian siblings who showed progressive intellectual disability and neurological deterioration. The disease itself is extremely rare (less than 100 documented cases) only affecting 1:2,000,000, with most cases being occurring in Italy, Cuba, and the southwest U.S. The disease has three different types. Type 1 and 2 are considered severe, and Type 3 being a mild disease. Symptoms are highly variable with mild cases being able to live to within the third or fourth decade. Type 1 and 2 are both linked with mental retardation. Severe cases can develop life-threatening complications early in childhood. 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. Other forms
Canine fucosidosis is found in the English Springer Spaniel.Typically affecting dogs between 18 months and four years, symptoms include:
Loss of learned behavior
Change in temperament
Blindness
Loss of balance
Deafness
Weight loss
From the onset, disease progress is quick and fatal.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. See also
Sialidosis

References
External links

http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1095/viewAbstract - Rare diseases.org