Catalog

Free sialic acid storage disease

No MMS code

Link to WHO Definition

Free sialic acid storage disease – http://id.who.int/icd/entity/1817428569

Free Sialic Acid Storage Disease (SSD) or Salla disease is a lysosomal storage disease with a variable clinical presentation, with severe forms (Infantile Sialic Acid Storage Disease) present in utero(with fetal hydrops and ascites) or at birth (with hypotonia, hepatosplenomegaly, ascites, coarse facies, bone malformations, severe motor disorders, intellectual deficit, and seizures). Individuals with the moderate form (initially described as Salla disease) present with hypotonia that may progress to include spasticity, ataxia, psychomotor retardation, and profound intellectual deficit.