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Related to Salla disease: infantile free sialic acid storage disease
an autosomal recessive disorder in which there is a defect in the transport of free sialic acid across lysosomal membranes.
[region of Finland where the first cases were reported]
Salla diseaseAn AR condition seen in the Salla region of Finland Clinical Psychomotor retardation, coarse facies, clumsiness, slow speech, spasticity, ataxia Lab Pts excrete and store 10-30-fold normal quantities of N-acetyl-neuraminic acid–NANA, sialic acid.
Salla disease(săl′a) [Salla, a municipality in Finnish Lapland]
A rare form of autosomal recessive mental retardation in which children develop poor muscle tone in the first years of life, ataxia, seizures, and coarsened facial features, among other variably expressed deficits. It is one of the lysosomal storage disorders.