Fucosidosis Type I is a rare genetic disease that affects the brain, spinal cord, and many other organs,
resulting in cellular death. Type I (infantile onset) is the most severe type, with
manifestations starting around 10 months of age (range 3-18 months) with progressive
dysfunction of the affected organs.
DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM
Diagnostic testing: Urine testing that is positive for the presence of oligosaccharides (partially broken
down sugars); Absent or deficiencies in activity of the enzyme alpha-L-fucosidase
in blood or skin samples confirms the diagnosis.
Physical findings: Physical findings for individuals with Fucosidosis Type I include:
• Distinct facial features such as, flat face, depressed nasal bridge, and bulging
• Progressive psychomotor and neurological deterioration;
• Joint contractures;
• Abnormal bone development;
• Enlargement of the heart, liver and spleen;
• Abnormal posture (bent arms, clenched fists, and legs held out straight, arms that
are bent toward the body and wrists, and fingers that are bent and held on the chest);
• Delayed growth; and
• A characteristic “cherry red spot” may be noted on the retina.
Suggested MER for Evaluation:
• Clinical history and physical examination that describes the diagnostic features
of the impairment;
• Documentation of mental and motor deterioration, seizures, skin findings, facial
features, etc; and
• Laboratory investigation should include identification of the deficient enzyme activity
in leucocytes, urine or skin fibroblasts.