Fucosidosis
Pathogenesis (Leukodystrophy, Fatty Acid Disorder)
- Alpha-L-fucosidase enzyme deficiency leads to failure of glycolipid and glycoprotein breakdown and results in toxic accumulation of glycolipids and glycoproteins with diffuse organ system involvement.
Clinical
- Onset: Infancy to early childhood
- Neurological manifestations: Cognitive Delay, Motor Impairment, Seizures
- Systemic manifestations: Skeletal Dysplasia, Angiokeratomas, Characteristic Facial Features ("Coarse")
- FUCA1 gene
References
- Calvo, Sherri; Collins, Heather; Greenberg, Kathleen, et. al at US National Library of Medicine, Genetics Home Reference. https://ghr.nlm.nih.gov