Assays / Genetic Enzymes / Salla Disease and Infantile N-Acetylneuraminic Acid Storage Disease

Salla disease is named after the area in Finland from which the first patients originated. The patients present within the first two years with psychomotor retardation, ataxia and hypotonia. The facies are sometimes slightly coarse. Most patients survive to adulthood, but with severe mental retardation.

Infantile N-acetylneuraminic acid (or infantile sialic acid) storage disease presents neonatally with coarse facies, pale skin, fair or wispy orange hair, hepatosplenomegaly, ascites and failure to thrive. Patients rarely survive more than a few months.

ENZYME TESTS: Measurement of N-acetylneuraminic acid (NANA), also called sialic acid.

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