Salla disease

The lysosomal disorder SASD is characterized by accumulation of the free acid monosaccharide sialic acid in the lysosomal compartment of the cell. Diagnosis is based on the demonstration of abnormal excretion of free, not OGS-bound sialic acid in urine, coupled with accumulation of free sialic acid in cultured fibroblasts, and on microscopic evidence of vacuoles (increased and swollen lysosomes filled with light electron-lucent material in skin biopsy and peripheral blood lymphocytes). The inheritance is autosomal recessive. There are different clinical forms of this disorder an adult form, called Salla disease (SD) or Finnish sialuria (OMIM 604369) infantile SASD (ISSD OMIM 269920) and an intermediate form, severe Salla disease [3,16]. 

Grosso S, Berardi R, Farnetani MA, Margollicci M, Mancini MG, Morgese G, Balestri P (2001) Multiple neuroendocrine disorder in Salla disease. J Child Neurol 16 775-777... 

Mancini GM, Hu P, Verheijen FW, van Diggelen OP, Janse HC, Kleijer WJ, Beemer FA, Jen-nekens FG (1992) Salla disease variant in a Dutch patient. Potential value of polymorphonuclear leucocytes for heterozygote detection. Eur J Pediatr 151 590-595... 

Sialic acid storage disorder Salla disease... 

Lysosomal accumulation of free sialic acid occurs in two phenotypically distinct inherited metabolic disorders, Salla disease and infantile sialic acid storage disease [1096]. Salla disease is an autosomal recessive lysosomal storage disorder and was first observed in patients of Fiimish ancestry, but also occurs outside Finland. The clinical symptoms are a slow progressive psychomotor retardation, impaired speech, ataxia and a prolonged course. Sialic acid accumulates in the lysosomes due to a defective efflux into the cytosol. The genetic defect affects the function of the specific transport protein for sialic acid and other acidic monosaccharides in the lysosomal membrane [1097]. The Salla disease locus... 

An increased urinary excretion of free A-acetylneuraminic acid has been detected in patients with Salla disease, which is a newly reported type of lysosomal storage disorder.Patients appear to lack an iV-acetylneuraminyl lyase or some lysosomal enzyme responsible for the degradation of AT-acetyl-neuraminic acid. 

Sialic acid storage disorder (Salla disease) Sialin (specific transporter) 6ql4-ql5 604369 ( 269920) ... 

A number sign ( ) is used with this entry because of both the infantile (MIM 604322) and Finnish (Salla disease, MIM 604369) forms of sialuria are due to mutation in the SLC17A5 gene (MIM 604322),... 

Saccharopinuria Salla disease Sandhoff disease Sanfilippo syndrome, type A Sanfilippo syndrome, type B... 

Increased levels of sialic acid in human urine have been reported in Salla disease, 165-350 (xmole Neu5Ac being excreted per day, thus corresponding to a 10-fold increase over normal levels (Renlund et al. 1979). 

Increased NeuSAc excretion in other diseases (e.g. Salla disease) has been reported (Renlund et al 1979), but the levels of Neu5Ac were not as high as in the sialuria patient. 

Gahl, W.A. Disorders of Lysosomal Membrane Transport—Cystinosis and Salla Disease. Enzyme 1987, 38, 154-160. 

Salla disease Psychomotor retardation, ataxia, abnormally high excretion of free sialic acid in the urine, rare and severe infantile form Free sialic acid Sialic acid transporter ... 

Molecular Genetics. The putative sialic acid transporter protein has not been isolated. Thus, no information is available regarding the molecular genetic aspects of Salla disease and its infantile variant. 

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