Salla disease


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Related to Salla disease: infantile free sialic acid storage disease

Sal·la dis·ease

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 disease

An 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.
References in periodicals archive ?
5B) was much higher than in the patient with Salla disease [4275 [micro]mol/mmol of creatinine; reference values, 20.
This makes it possible to differentiate patients with isolated neuraminidase deficiency, who excrete bound N-acetylneuraminic acid, from patients with Salla disease or French type sialuria, who excrete excess free N-acetylneuraminic acid in urine (13).