LSDDB

Sialidosis

NEU1 (neuraminidase) present in the lysosomes are the most important of neuraminidases since it is involved in metabolic genetic disorders, in this case causes sialidosis. The encoding the enzyme NEU1 is located at 6p21.3. The disease is further divided into two types. The late onset disease classified as type 1 is milder. However, the early onset disease classified as type 2 is more severe and is associated with intellectual disabilities (Coppola et al., 2020).

Reference :
Coppola, A. et al. (2020) ‘Diagnosis and Management of Type 1 Sialidosis: Clinical Insights from Long-Term Care of Four Unrelated Patients’, Brain Sciences, 10(8), p. 506. doi: 10.3390/brainsci10080506.