Sialidosis
Pathogenesis (Lysosomal Storage Disorder)
- Neuraminidase 1 deficiency leads to toxic accumulation of sialic acid.
Clinical
- Type 1: Cherry-Red Spot Myoclonus Syndrome
- Type 2: Hydrops Fetalis, Hepatosplenomegaly, Bone Development Abnormalities, Coarse Facial Features.
Genetics
- NEU1 gene mutation
- Autosomal recessive
References
- Calvo, Sherri; Collins, Heather; Greenberg, Kathleen, et. al at US National Library of Medicine, Genetics Home Reference. https://ghr.nlm.nih.gov