A cross-sectional quantitative analysis of the natural history of free sialic acid storage disease: an ultra-orphan multisystemic lysosomal storage disorder
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. Analysis of published cases with SASD (N = 116) respecting STROBE criteria. Main outcome parameters: survival and dia...
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| Main Authors: | , , , , |
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| Format: | Article (Journal) |
| Language: | English |
| Published: |
2019
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| In: |
Genetics in medicine
Year: 2018, Volume: 21, Issue: 2, Pages: 347-352 |
| ISSN: | 1530-0366 |
| DOI: | 10.1038/s41436-018-0051-3 |
| Online Access: | Verlag, Volltext: https://doi.org/10.1038/s41436-018-0051-3 Verlag, Volltext: https://www.nature.com/articles/s41436-018-0051-3 
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| Author Notes: | Matthias Zielonka MD, Sven F. Garbade PhD, Stefan Kölker MD, Georg F. Hoffmann MD & Markus Ries MD, PhD |
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| 245 | 1 | 2 | |a A cross-sectional quantitative analysis of the natural history of free sialic acid storage disease |b an ultra-orphan multisystemic lysosomal storage disorder |c Matthias Zielonka MD, Sven F. Garbade PhD, Stefan Kölker MD, Georg F. Hoffmann MD & Markus Ries MD, PhD |
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| 520 | |a 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. Analysis of published cases with SASD (N = 116) respecting STROBE criteria. Main outcome parameters: survival and diagnostic delay. Phenotype, phenotype-biomarker associations, and geographical patient distribution were explored. Median age at disease onset was 0.17 years. Median age at diagnosis was 3 years with a median diagnostic delay of 2.5 years. Median survival was 11 years. The biochemical phenotype clearly predicted the disease course: patients with a urinary free sialic acid excretion below 6.37-fold or an intracellular free sialic acid storage in fibroblasts below 7.37-fold of the mean of normal survived longer than patients with biochemical values above these thresholds. Cluster analysis of disease features suggested a continuous phenotypic spectrum. Patient distribution was panethnic. Combination of neurologic symptoms, visceromegaly, and dysmorphic features and/or nonimmune hydrops fetalis should prompt specific tests for SASD, reducing diagnostic delay. The present quantitative data inform clinical studies and may stimulate and accelerate development of specific therapies. Biomarker-phenotype association is particularly important for both counseling parents and study design. | ||
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