Sialic acid storage disease.
نویسندگان
چکیده
منابع مشابه
Sialic acid storage disease (SASD) is a rare autosomal recessive lysosomal storage disorder characterized by excessive urinary excretion of free sialic acid and an accumulation of free sialic acid in skin fibroblasts
tection of Sialic Acid Storage Disease, Adrian C. Sewell, Helena C. Murphy, and Richard A. Iles ( Department of Paediatrics, University of Frankfurt, 60596 Frankfurt am Main, Germany; 2 Medical Unit and 3 Department of Diabetes and Metabolic Medicine, St. Bartholomew’s and the Royal London School of Medicine and Dentistry, Whitechapel, London E1 1BB, United Kingdom; * address correspondence to ...
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Egress of free NeuAc from normal lysosome-rich granular fractions was assessed at NeuAc concentrations of up to 221 pmol/hexosaminidase unit, achieved by exposure of growing fibroblasts to 40-125 nM N-acetylmannosamine for up to 7 days. The normal velocity of NeuAc egress increased with NeuAc loading and with temperature, exhibiting a Q10 of 2.4, characteristic of carrier-mediated transport. Fi...
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BACKGROUND Sialic acid storage diseases are neurodegenerative disorders characterized by accumulation of sialic acid in the lysosome. These disorders are caused by mutations in SLC17A5, the gene encoding sialin, a sialic acid transporter located in the lysosomal membrane. The most common form of sialic acid storage disease is the slowly progressive Salla disease, presenting with hypotonia, atax...
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A new study by Galeano and colleagues in this issue of the JCI reports the first glomerular disease caused by a genetic defect in sialic acid biosynthesis (see the related article beginning on page 1585). Mice that harbor mutations in the Gne/Mnk gene produce lower amounts of sialic acid, suffer from hematuria, proteinuria, and structural defects in the glomerulus and die within days after birt...
متن کاملSialic acid in sickle cell disease.
Neuraminic (sialic) acid concentrations in serum from normal and sickle cell (HbSS) subjects were determined for discrete age groups from childhood through adolescence. Values in sickle cell disease were consistently lower over the entire age range. We further investigated the effect of exogenous sialic acid on the rate of sickling reversion of HbSS erythrocytes and demonstrated that this compo...
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ژورنال
عنوان ژورنال: Archives of Disease in Childhood
سال: 1990
ISSN: 0003-9888,1468-2044
DOI: 10.1136/adc.65.3.314