ArticleJournal of medical genetics2005
Clinical, morphological, and molecular aspects of sialic acid storage disease manifesting in utero.
Article in Journal of medical genetics, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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17 citing papers in PubMed, 49 citations in OpenAlex.
- A novel SLC17A5 variant in infantile sialic acid storage disease with hyporegenerative anemia: Neuroimaging insights and literature review.Molecular genetics and metabolism reports · 2025Review
- Atypical free sialic acid storage disorder associated with tissue specific mosaicism of SLC17A5.Molecular genetics and metabolism · 2025Article
- [Free sialic acid storage disorders with fetal hydrops in a neonate].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2023Article
- Characterization of pregnancy outcome of women with an offspring with inborn errors of metabolism: A population-based study.Frontiers in genetics · 2022Article
- Prenatal hydrops fetalis associated with infantile free sialic acid storage disease due to a novel homozygous deletion in theCold Spring Harbor molecular case studies · 2021Article
- Free sialic acid storage disorder: Progress and promise.Neuroscience letters · 2021Review
- Placental Findings in Lysosomal Storage Disease Diagnosis: A Case Report of Galactosialidosis.Case reports in pathology · 2020Article
- Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disorders.Journal of inherited metabolic disease · 2018Review
- Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease.Orphanet journal of rare diseases · 2017Article
- Antenatal manifestations of inborn errors of metabolism: prenatal imaging findings.Journal of inherited metabolic disease · 2017Review
- Antenatal manifestations of inborn errors of metabolism: biological diagnosis.Journal of inherited metabolic disease · 2016Review
- Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.Journal of inherited metabolic disease · 2016Review
- Infantile Sialic Acid Storage Disease: Two Unrelated Inuit Cases Homozygous for a Common Novel SLC17A5 Mutation.JIMD reports · 2014Article
- Prenatal screening of sialic acid storage disease and confirmation in cultured fibroblasts by LC-MS/MS.Journal of inherited metabolic disease · 2011Article
- Lysosomal storage disorders: molecular basis and laboratory testing.Human genomics · 2011Review
- Lysosomal storage disorders in the newborn.Pediatrics · 2009Review
- Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease.Neurogenetics · 2005Article
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSialic acid storage diseases (SASDs) are caused by the defective transport of free sialic acid outside the lysosome. Apart from the Salla presentation in Finland, SASD is a very rare form of lysosomal storage disease (LSD) with approximately 35 cases, all diagnosed after birth, having been reported worldwide. We report a series of 12 French patients with very early manifestations, including eight fetuses diagnosed in utero.
resultsUltrasound examination, fetal autopsy, or clinical examination showed prominent ascites, rarely progressing to complete hydrops, and highlighted the early severity of bone disease. Dramatic increase of free sialic acid in various biological samples confirmed the diagnosis in all cases. Storage staining affinities and storage distribution in placenta and fetal organs allowed differential diagnosis from other LSDs but cannot differentiate between SASD, sialidosis, and galactosialidosis. Fourteen different mutations were identified, showing the molecular heterogeneity of SASD in the French population. We found that the previously described p.Y306X mutation generated two different transcripts, and we identified seven novel mutations: three deletions (del exon 7, del exons10+11 and c.1296delT), one splice site mutation (c.1350+1G-->T) one nonsense mutation (p.W339X), and two missense mutations (p.R57C and p.G127E).
conclusionsThe severity of our patients' genotypes is in agreement with their phenotypes but not with the importance and early appearance of the very frequent in utero manifestations. Minimal fetal disease in some patients and a reported case of heterogeneity of fetal involvement within a family suggest that factors other than the genotype influence fetal manifestations.
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