We respect your privacy
Analytics cookies show us how the site is used; advertising cookies from Google and Meta measure our ads. Choose which to allow, and change it any time under Your Privacy Choices.
Condition report · Metabolic
Inherited lysosomal storage diseases caused by SLC17A5 variants that block the export of free sialic acid from lysosomes, ranging from slowly progressive Salla disease to severe infantile disease.
A condition report looks for rare variants known to cause the conditions it covers.
Autosomal recessive
Low muscle tone, developmental delay, ataxia and intellectual disability beginning in infancy and progressing slowly; more common in Finland.
What a diagnosis changes
Care is supportive, including therapy and developmental support.
Genes analysed
Also known as
SD; sialic acid storage disease
Autosomal recessive
A form between classic Salla disease and the infantile form, with more severe developmental impairment.
Also known as
Intermediate Salla disease
Autosomal recessive
Severe disease from birth or before, with fetal hydrops, coarse features, organ enlargement and early death.
Genes analysed
Also known as
infantile sialic acid storage disease; infantile sialic acid storage disorder; ISSD; sialuria, infantile form
One kit, sent to your home. Your entire genome sequenced at the clinical standard used for diagnostic decisions. Physician-ready reports delivered to your Genome Manager in 6–8 weeks — permanent and updated as science advances.
Free shipping · Results in 6–8 weeks
Premium adds $99 per kit for the first year.
