Fucosidosis

Fucosidosis is a very rare lysosomal storage disorder that is characterized by accumulation of alpha-linked fucose-containing glycolipids and oliogaccharides. The clinical features include intellectual disability, growth retardation, progressive neurodegeneration with loss of mental and motor skills, coarse facies, recurrent infections, skeletal abnormalitities, joint contractures, angiokeratoma corporis diffusum, visceromegaly, seizures, ocular abnormalities and hearing loss. Historically, two types of fucosidosis were described, based on severity and age of onset. However, current interpretation is that there is a continuum of phenotypes, and individuals within the same family have been reported with phenotypes on both ends of the clinical spectrum. A minority of patients have rapidly progressive neurologic deterioration leading to death before age 5 years, while the majority have slower neurologic deterioration and survive into the second or third decade. Fucosidosis patients have been described worldwide with Italians and Mexican-Indian populations of New Mexico and Colorado having a higher incidence.

Tests Available

Forms and Documents

Test Details

FUCA1
  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing

Ordering

661
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 271.8 Other specified disorders of carbohydrate transport and metabolism Essential benign pentosuria Fucosidosis Glycolic aciduria Hyperoxaluria (primary) Mannosidosis Oxalosis Xylosuria Xylulosuria
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References

  1. Willems et al., (1991) Am J Med Genet 38 :111-131.
  2. Willems et al., (1999) Euro J Hum Genet 7:60-67.