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fucosidosis
Pathology:
- lysosomal storage_disease
- accumulation of fucose-containing glycolipids & glycoproteins in various tissues
- cerebral degeneration
- angiokeratoma
Genetics:
- autosomal recessive
- associated with defects in FUCA1
Clinical manifestations:
- progressive psychomotor deterioration
- growth retardation
- muscle spasticity
- thick skin
Laboratory:
- alpha-fucosidase in dried blood spot
- alpha-fucosidase in fibroblasts
- alpha-fucosidase in leukocytes
Related
alpha-L-fucosidase
General
mucolipidosis
Properties
ACCUMULATION: PENTAHEXOSYLFUCOGLYCOLIPID
DEFICIENCY: alpha-fucosidase
Database Correlations
OMIM 230000
References
- Textbook of Biochemistry with Clinical Correlations,
3rd ed., TM Devlin (ed), Wiley-Liss, NY 1992 pg 459
- OMIM :accession 230000