Free sialic acid storage disease
ORPHA:834· ICD-10 E77.8
Definition
A rare lysosomal storage disease characterized by a spectrum of clinical manifestations including neurological and developmental disorders with a severity ranging from the milder form, also called Salla disease (SD), to the most severe phenotype, also called infantile free sialic acid storage disease (ISSD).
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal