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[Fucosidosis type 2. A new case (author's transl)]
Anales Espanoles De Pediatria
|November 1, 1977
Summary
This study identifies alpha-fucosidase deficiency in a child, diagnosing type 2 fucosidosis. Angiokeratoma corporis diffusum and biochemical markers confirmed the rare genetic disorder.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Fucosidosis is a rare lysosomal storage disorder caused by alpha-fucosidase deficiency.
- Type 2 fucosidosis presents with severe neurological impairment and angiokeratoma corporis diffusum.
- Early diagnosis is crucial for management and genetic counseling.