A cross-sectional quantitative analysis of the natural history of free sialic acid storage disease—an ultra-orphan multisystemic lysosomal storage disorder View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2018-06-06

AUTHORS

Matthias Zielonka, Sven F. Garbade, Stefan Kölker, Georg F. Hoffmann, Markus Ries

ABSTRACT

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. METHODS: 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. RESULTS: 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. CONCLUSION: 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. More... »

PAGES

1-6

Journal

TITLE

Genetics in Medicine

ISSUE

N/A

VOLUME

N/A

Author Affiliations

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/s41436-018-0051-3

DOI

http://dx.doi.org/10.1038/s41436-018-0051-3

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1104401181

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/29875421


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