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Lysosomal storage diseases.
Burlina AP, Manara R, Gueraldi D. Burlina AP, et al. Handb Clin Neurol. 2024;204:147-172. doi: 10.1016/B978-0-323-99209-1.00008-9. Handb Clin Neurol. 2024. PMID: 39322377
Diseases with primary WM involvement are leukodystrophies, demyelinating (Krabbe disease and metachromatic leukodystrophy), and hypomyelinating leukodystrophies (free sialic acid storage disease, fucosidosis, and mucolipidosis type IV). LSDs with secon …
Diseases with primary WM involvement are leukodystrophies, demyelinating (Krabbe disease and metachromatic leukodystrophy), and hypomyelinat …
Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease.
Tarailo-Graovac M, Drögemöller BI, Wasserman WW, Ross CJ, van den Ouweland AM, Darin N, Kollberg G, van Karnebeek CD, Blomqvist M. Tarailo-Graovac M, et al. Orphanet J Rare Dis. 2017 Feb 10;12(1):28. doi: 10.1186/s13023-017-0584-6. Orphanet J Rare Dis. 2017. PMID: 28187749 Free PMC article.
RESULTS: The thiobarbituric acid method showed elevated levels of free sialic acid in urine and fibroblasts, indicating sialic acid storage disease. Initial Sanger sequencing of SLC17A5 coding regions did not show any pathogenic variants, although exon …
RESULTS: The thiobarbituric acid method showed elevated levels of free sialic acid in urine and fibroblasts, indicating sialic aci …
Analysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage disorders.
Hagemeijer MC, van den Bosch JC, Bongaerts M, Jacobs EH, van den Hout JMP, Oussoren E, Ruijter GJG. Hagemeijer MC, et al. J Inherit Metab Dis. 2023 Mar;46(2):206-219. doi: 10.1002/jimd.12597. Epub 2023 Feb 28. J Inherit Metab Dis. 2023. PMID: 36752951
Aberrant urinary oligosaccharide excretions were also detected for other disorders, including NGLY1 congenital disorder of deglycosylation, sialic acid storage disease, MPS type IV B and GSD II (Pompe disease). For the latter disorder, we identified he …
Aberrant urinary oligosaccharide excretions were also detected for other disorders, including NGLY1 congenital disorder of deglycosylation, …
Lysosomal storage disorders as an etiology of nonimmune hydrops fetalis: A systematic review.
Iyer NS, Gimovsky AC, Ferreira CR, Critchlow E, Al-Kouatly HB. Iyer NS, et al. Clin Genet. 2021 Nov;100(5):493-503. doi: 10.1111/cge.14005. Epub 2021 Jul 16. Clin Genet. 2021. PMID: 34057202 Free PMC article.
The most common LSD identified in cases of NIHF were mucopolysaccharidosis type VII, galactosialidosis, infantile sialic acid storage disease, Gaucher disease, GM1 gangliosidosis, and sialidosis. More than 40% of the most common LSD causes of NIHF have …
The most common LSD identified in cases of NIHF were mucopolysaccharidosis type VII, galactosialidosis, infantile sialic acid …
A cross-sectional quantitative analysis of the natural history of free sialic acid storage disease-an ultra-orphan multisystemic lysosomal storage disorder.
Zielonka M, Garbade SF, Kölker S, Hoffmann GF, Ries M. Zielonka M, et al. Genet Med. 2019 Feb;21(2):347-352. doi: 10.1038/s41436-018-0051-3. Epub 2018 Jun 6. Genet Med. 2019. PMID: 29875421 Free article.
PURPOSE: Quantitative definition of the natural history of free sialic acid storage disease (SASD, OMIM 604369), an orphan disorder due to the deficiency of the proton-driven carrier SLC17A5. ...
PURPOSE: Quantitative definition of the natural history of free sialic acid storage disease (SASD, OMIM 604369), …
Biochemical and molecular analyses of infantile sialic acid storage disease in a patient with nonimmune hydrops fetalis.
Kang E, Kim YM, Heo SH, Jung E, Kim KS, Yoo HJ, Kim EN, Kim CJ, Kim GH, Lee BH. Kang E, et al. Clin Chim Acta. 2018 Jul;482:199-202. doi: 10.1016/j.cca.2018.04.016. Epub 2018 Apr 11. Clin Chim Acta. 2018. PMID: 29654786
We report a Korean infant affected by an extremely rare but severe form of sialic acid storage disease. The patient presented with nonimmune hydrops fetalis, dysmorphic facial features, hepatosplenomegaly, and dysostosis multiplex and died at 39 days o …
We report a Korean infant affected by an extremely rare but severe form of sialic acid storage disease. The pati …
Prenatal hydrops fetalis associated with infantile free sialic acid storage disease due to a novel homozygous deletion in the SLC17A5 gene.
Hasnain A, Burnett S, Agatep R, Spriggs E, Chodirker B, Mhanni AAA. Hasnain A, et al. Cold Spring Harb Mol Case Stud. 2021 Oct 19;7(5):a006106. doi: 10.1101/mcs.a006106. Print 2021 Oct. Cold Spring Harb Mol Case Stud. 2021. PMID: 34667062 Free PMC article.
Lysosomal storage diseases have been reported in up to 5%-16% of nonimmune hydrops fetalis pregnancies. Infantile free sialic acid storage disease (ISSD) (OMIM #269920) is a severe form of autosomal recessive sialic acid storage …
Lysosomal storage diseases have been reported in up to 5%-16% of nonimmune hydrops fetalis pregnancies. Infantile free sialic acid …
Free urinary sialic acid levels may be elevated in patients with pneumococcal sepsis.
Donoghue SE, Heath O, Pitt J, Hong KM, Fuller M, Smith J. Donoghue SE, et al. Clin Chem Lab Med. 2022 Aug 25;60(11):1855-1858. doi: 10.1515/cclm-2022-0473. Print 2022 Oct 26. Clin Chem Lab Med. 2022. PMID: 36000484
OBJECTIVES: Urine free sialic acid (UFSA) is an important diagnostic biomarker for sialuria (GNE variants) and infantile sialic acid storage disease/Salla disease (SLC17A5 variants). Traditionally, UFSA has been measured using specific single-plex meth …
OBJECTIVES: Urine free sialic acid (UFSA) is an important diagnostic biomarker for sialuria (GNE variants) and infantile sialic ac …
Longitudinal Characterization of the Clinical Course of Intermediate-Severe Salla Disease.
Chapleau A, Mirchi A, Tran LT, Poulin C, Bernard G. Chapleau A, et al. Pediatr Neurol. 2023 Nov;148:133-137. doi: 10.1016/j.pediatrneurol.2023.08.013. Epub 2023 Aug 19. Pediatr Neurol. 2023. PMID: 37713976 Free article.
BACKGROUND: Biallelic pathogenic variants in SLC17A5 cause three forms of free sialic acid storage disease categorized based on severity from least to most severe: Salla disease, intermediate-severe Salla disease, and infantile free sialic ac …
BACKGROUND: Biallelic pathogenic variants in SLC17A5 cause three forms of free sialic acid storage disease categ …
Hypogammaglobulinemia and imaging features in a patient with infantile free sialic acid storage disease (ISSD) and a novel mutation in the SLC17A5 gene.
Žigman T, Petković Ramadža D, Lušić M, Zekušić M, Ninković D, Gardijan D, Potočki K, Omerza L, Beljan L, Žarković K, Kerkhof J, Ljubojević M, de Sain-van der Velden M, Vuković J, Fumić K, Sadiković B, Barić I. Žigman T, et al. J Pediatr Endocrinol Metab. 2018 Oct 25;31(10):1155-1159. doi: 10.1515/jpem-2017-0397. J Pediatr Endocrinol Metab. 2018. PMID: 30243016
Background Infantile free sialic acid storage disease (ISSD) is a severe multisystemic disorder characterized by the accumulation of free sialic acid in lysosomes. ...
Background Infantile free sialic acid storage disease (ISSD) is a severe multisystemic disorder characterized by …
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