PACER: Minnesota Parent Training and Information Center. Archived from the original (PDF) on 2 October 2006. Retrieved 29 June 2022. Behaviour Management (EBD) Review Group: Published reviews
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.