An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage disease

2002 ◽  
Vol 61 (6) ◽  
pp. 443-447 ◽  
Author(s):  
R Biancheri ◽  
E Verbeek ◽  
A Rossi ◽  
R Gaggero ◽  
L Roccatagliata ◽  
...  
Keyword(s):  
Sialic Acid ◽  
Storage Disease ◽  
Salla Disease ◽  
Disease Variant ◽  
Sialic Acid Storage Disease

scholarly journals Defective glucuronic acid transport from lysosomes of infantile free sialic acid storage disease fibroblasts

1990 ◽  
Vol 268 (3) ◽  
pp. 621-625 ◽  
Author(s):  
H J Blom ◽  
H C Andersson ◽  
R Seppala ◽  
F Tietze ◽  
W A Gahl
Keyword(s):  
Sialic Acid ◽  
Storage Disease ◽  
Glucuronic Acid ◽  
Mutant Cell ◽  
Calf Serum ◽  
Cell Protein ◽  
Salla Disease ◽  
Cell Strains ◽  
Sialic Acid Storage Disease ◽  
Free Sialic Acid

Separation by h.p.l.c. and pulsed amperometric detection were employed to measure glucuronic acid (GlcUA) and other acidic monosaccharides in fibroblasts from patients with infantile free sialic acid storage disease (ISSD) and Salla disease. These lysosomal storage disorders result from defective carrier-mediated transport of free N-acetylneuraminic acid (NeuAc) out of cellular lysosomes. Three Salla disease fibroblast strains stored approx. 0.4 nmol of free GlcUA/mg of cell protein, whereas four ISSD strains stored approx. 5 nmol GlcUA/mg (normal is undetectable). The GlcUA content of the mutant cell strains, which by differential centrifugation and Percoll gradient fractionation was localized to the lysosomes, averaged 5% of the free NeuAc content of the cells. N-Glycolylneuraminic acid (NeuGc) also accumulated in ISSD cells, but only when they were grown in the presence of fetal calf serum, which contains abundant NeuGc. No other acidic monosaccharides were detected in any of the mutant cell strains. GlcUA egress studies revealed that 56% of the initial GlcUA content was lost from normal granular fractions after 2 min at 37 degrees C. For similarly loaded ISSD granular fractions, virtually no GlcUA was lost even after 6 min. The results indicate that GlcUA is recognized and transported by the lysosomal NeuAc carrier, and that GlcUA transport is impaired in the lysosomal disorders of free NeuAc storage.

Free Sialic Acid Storage Disease Mimicking Cerebral Palsy and Revealed by Blood Smear Examination

2011 ◽  
Vol 158 (1) ◽  
pp. 165-165.e1 ◽  
Author(s):  
François-Guillaume Debray ◽  
Caroline Lefebvre ◽  
Stéphanie Colinet ◽  
Karin Segers ◽  
René Stevens
Keyword(s):  
Cerebral Palsy ◽  
Sialic Acid ◽  
Blood Smear ◽  
Storage Disease ◽  
Smear Examination ◽  
Blood Smear Examination ◽  
Sialic Acid Storage Disease ◽  
Free Sialic Acid

Fetal ascites and oligohydramnios: Prenatal diagnosis of a sialic acid storage disease (index case)

1995 ◽  
Vol 15 (9) ◽  
pp. 864-867 ◽  
Author(s):  
P. Poulain ◽  
S. Odent ◽  
I. Maire ◽  
J. Milon ◽  
J. F. Proudhon ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Sialic Acid ◽  
Storage Disease ◽  
Index Case ◽  
Disease Index ◽  
Sialic Acid Storage Disease

Hypogammaglobulinemia and imaging features in a patient with infantile free sialic acid storage disease (ISSD) and a novel mutation in the SLC17A5 gene

2018 ◽  
Vol 31 (10) ◽  
pp. 1155-1159
Author(s):  
Tamara Žigman ◽  
Danijela Petković Ramadža ◽  
Mario Lušić ◽  
Marija Zekušić ◽  
Dorotea Ninković ◽  
...  
Keyword(s):  
Sialic Acid ◽  
Storage Disease ◽  
Novel Mutation ◽  
Lysosomal Storage Diseases ◽  
Imaging Features ◽  
Lysosomal Storage ◽  
Biochemical Tests ◽  
Radiographic Findings ◽  
Sialic Acid Storage Disease ◽  
Free Sialic Acid

Abstract Background Infantile free sialic acid storage disease (ISSD) is a severe multisystemic disorder characterized by the accumulation of free sialic acid in lysosomes. Case presentation The patient presented prenatally with fetal ascites and large scrotal hernias, without pleural or pericardial effusion. During the infantile period, he was diagnosed with permanent isolated immunoglobulin G (IgG) hypogammaglobulinemia, which thus far has rarely been associated with ISSD. The analysis of the SLC17A5 gene revealed a novel homozygous 94 bp gene deletion. We further provide a detailed description of pre- and postnatal clinical and radiographic findings. Conclusions Fetal ascites could be the first sign of several lysosomal storage diseases (LSDs), including ISSD. The analysis of LSD gene panels is an effective approach to diagnosis in the case of non-specific symptoms and when specific biochemical tests are not easily available.

scholarly journals Transport of organic anions by the lysosomal sialic acid transporter: a functional approach towards the gene for sialic acid storage disease

FEBS Letters ◽  
1999 ◽  
Vol 446 (1) ◽  
pp. 65-68 ◽  
Author(s):  
Adrie C. Havelaar ◽  
Cecile E.M.T. Beerens ◽  
Grazia M.S. Mancini ◽  
Frans W. Verheijen
Keyword(s):  
Sialic Acid ◽  
Storage Disease ◽  
Organic Anions ◽  
Functional Approach ◽  
Acid Transporter ◽  
Sialic Acid Storage Disease

Infantile sialic acid storage disease in two siblings

1988 ◽  
Vol 11 (S2) ◽  
pp. 259-262 ◽  
Author(s):  
A. Cooper ◽  
I. B. Sardharwalla ◽  
M. Thornley ◽  
K. P. Ward
Keyword(s):  
Sialic Acid ◽  
Storage Disease ◽  
Sialic Acid Storage Disease

Ultrasound assessment in a case of sialic acid storage disease

2001 ◽  
Vol 18 (3) ◽  
pp. 272-274 ◽  
Author(s):  
L. Carbillon ◽  
C. Largillière ◽  
M. Bucourt ◽  
B. Scheuer-Niro ◽  
J. M. Levaillant ◽  
...  
Keyword(s):  
Sialic Acid ◽  
Storage Disease ◽  
Ultrasound Assessment ◽  
Sialic Acid Storage Disease
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