A Japanese case of infantile sialic acid storage disease

Nakano, C; Hirabayashi, Yoshio; Ohno, Kousaku; Yano, Tomohisa; Mito, Takashi; Sakurai, Minoru

doi:10.1016/0387-7604(95)00142-5

Cited by 7 publications

(5 citation statements)

References 15 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…We are aware of one earlier report of two children with free sialic acid storage and increased neuraminidase activity in lymphocytes, although activity was normal in fibroblasts in these same patients (Ylitalo et al 1986). In contrast, several authors have reported neuraminidase activity in ISSD patients as "normal" or "not decreased" (Baumk€ otter et al 1985;Paschke et al 1986;Pueschel et al 1988;Fois et al 1987;Nakano et al 1996;Lemyre et al 1999). Whether this apparent inconsistency represents true biological variation, differences in technique, or a chance observation due to the influence of other genetic modifiers is unclear at present.…”

Section: Discussionmentioning

confidence: 93%

“…Previous reports have described SLC17A5 mutations in Finnish, Swedish, Danish, Italian, French, Polish, Yugoslav, Turkish, Bedouin, Japanese, and North American (including French Canadian) patients (Biancheri et al 2002(Biancheri et al , 2005Coker et al 2009;Erikson et al 2002;Landau et al 2004;Nakano et al 1996;Sonderby Christensen et al 2003;Tylki-Szymanska et al 2003;Verheijen et al 1999). Apart from the common p.Arg39Cys allele, no other founder alleles have been described.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Infantile Sialic Acid Storage Disease: Two Unrelated Inuit Cases Homozygous for a Common Novel SLC17A5 Mutation

et al. 2013

View full text Add to dashboard Cite

Infantile sialic acid storage disease (ISSD) is a lysosomal storage disease characterized by accumulation of covalently unlinked (free) sialic acid in multiple tissues. ISSD and Salla disease (a predominantly neurological disorder) are allelic disorders caused by recessive mutations of a lysosomal anionic monosaccharide transporter, SLC17A5. While Salla disease is common in Finland due to a founder-effect mutation (p.Arg39Cys), ISSD is comparatively rare in all populations studied.Here, we describe the clinical and molecular features of two unrelated Canadian Inuit neonates with a virtually identical presentation of ISSD. Both individuals presented antenatally with fetal hydrops, dying shortly following delivery. Urinary free sialic acid excretion was markedly increased in the one case in which urine could be obtained for testing; postmortem examination showed a picture of widespread lysosomal storage in both. Both children were homozygous for a novel splice site mutation (NM_012434: c.526-2A>G) resulting in skipping of exon 4 and an ensuing frameshift. Analysis of a further 129 pan-Arctic Inuit controls demonstrated a heterozygous carrier rate of 1/129 (~0.4 %) in our sample. Interestingly, lysosomal enzyme studies showed an unexplained ninefold increase in neuraminidase activity, with lesser elevations in the activities of several other lysosomal enzymes. Our results raise the possibility of a common founder mutation presenting as hydrops in this population. Furthermore, if confirmed in subsequent cases, the marked induction of neuraminidase activity seen here may prove useful in the clinical diagnosis of ISSD.

show abstract

Section: Discussionmentioning

confidence: 93%

Section: Introductionmentioning

confidence: 99%

Infantile Sialic Acid Storage Disease: Two Unrelated Inuit Cases Homozygous for a Common Novel SLC17A5 Mutation

et al. 2013

View full text Add to dashboard Cite

show abstract

“…Up to now, only one case (a female) of ISSD in Japan has been reported (Nakano et al 1996). She presented failure to thrive, coarse facies, hepatosplenomegaly, severe psychomotor retardation, and spastic quadriplegia.…”

Section: Discussionmentioning

confidence: 99%

Clinical, biochemical, and cytochemical studies on a Japanese Salla disease case associated with a renal disorder

et al. 2004

View full text Add to dashboard Cite

We report the first Japanese case of Salla disease. A 5-year-old male patient developed unique proteinuria with other clinical manifestations, including coarse facies, dysostosis multiplex, mild mitral valve regurgitation, umbilical and inguinal herniation, and mild developmental delay. Pathological analysis of biopsied kidney tissues showed marked vacuolation of podocytes, mesangial cells, capillary endothelial cells, and tubular cells. Biochemical studies involving thinlayer chromatography and mass spectrometry revealed increased excretion of free sialic acid (N-acetylneuraminic acid) into the patient's urine. Immuno-and lectin staining of the patient's cells demonstrated the accumulation of sialyl and asialyl glycoconjugates in lysosomes and late endosomes. A defect in sialyl glycoconjugate metabolism is thought to have occurred in the patient's cells, besides impairment of the lysosomal transport of free sialic acid residues. A renal disorder should be considered as an important manifestation, not only in infantile free sialic acid storage disease but also in Salla disease.

show abstract

“…The metastatic potential of gastric cancer cells has been found to be associated with high level of α-2,3-linked sialic acid residues (Wang et al 2009). Hyperexcretion of urinary free sialic during sialuria and infantile sialic acid storage diseases prove that the degraded sialic acid gets excreted through urine and is transported via the plasma (Nakano et al 1996).…”

Section: Resultsmentioning

confidence: 99%

Erythrocyte membrane bound and plasma sialic acid during aging

Kumar

Rizvi

2013

Biologia

View full text Add to dashboard Cite

Sialic acid, a nine-carbon sugar, is an acetylated derivative of neuraminic acid predominantly found in vertebrates, a few higher invertebrates, and certain types of bacteria. Red blood cells (RBCs) have a net negative surface charge and this bulk charge is due to ionized sialic acid. Decreased surface charge and sialic acid content have been reported in older erythrocytes, and it is postulated that the decreased electro-negativity may be related to cell senescence. In the present study we report the RBC and plasma sialic acid content during aging in rats. Our results show a significant decrease in RBC sialic acid content and increase in plasma sialic acid as a function of rat aging. The decreased sialic acid in erythrocyte membrane with increasing rat age presents a good biomarker of the aging process. The elevated plasma sialic acid may be a manifestation of several factors including increased expression of acute phase proteins and increased damage to various organs.

show abstract

A Japanese case of infantile sialic acid storage disease

Cited by 7 publications

References 15 publications

Infantile Sialic Acid Storage Disease: Two Unrelated Inuit Cases Homozygous for a Common Novel SLC17A5 Mutation

Infantile Sialic Acid Storage Disease: Two Unrelated Inuit Cases Homozygous for a Common Novel SLC17A5 Mutation

Clinical, biochemical, and cytochemical studies on a Japanese Salla disease case associated with a renal disorder

Erythrocyte membrane bound and plasma sialic acid during aging

Contact Info

Product

Resources

About