Salla disease


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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]
Farlex Partner Medical Dictionary © Farlex 2012

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.
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.

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.
Medical Dictionary, © 2009 Farlex and Partners
References in periodicals archive ?
5B) was much higher than in the patient with Salla disease [4275 [micro]mol/mmol of creatinine; reference values, 20.2 (11.6) [micro]mol/mmol of creatinine for ages >2 years (12)].
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).
Clinically, two major forms exist: an infantile type with severe progression leading to early death (2), and a milder form (Salla disease) with a protracted course (3).