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2023 ACMG Annual Clinical Genetics Meeting Digital ...
Characterization of Free Sialic Acid Storage Disor ...
Characterization of Free Sialic Acid Storage Disorder Clinical Presentations
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Pdf Summary
Free Sialic Acid Storage Disorder (FSASD) is a lysosomal storage disorder caused by genetic abnormalities in the SLC17A5 gene. This gene codes for sialin, a protein that transports sialic acid out of lysosomes. Dysfunctional sialin leads to the accumulation of sialic acid in lysosomes and various clinical manifestations, including developmental delays, facial dysmorphisms, and increased urinary sialic acid excretion. The natural history of FSASD is not well understood, so a study was conducted to characterize the clinical presentations and identify potential biomarkers.<br /><br />The study included FSASD patients enrolled in a clinical protocol. The patients exhibited hypogalactosylation and hypomannosylation, and the study expanded knowledge on brain imaging of individuals with FSASD. The study aims to provide outcome parameters for future clinical trials.<br /><br />FSASD severity is categorized into three subtypes: Salla disease, intermediate severity FSASD, and infantile free sialic acid storage disease (ISSD). All subtypes involve neurodegeneration and cognitive impairment, with ISSD being the most severe and associated with early childhood mortality. Urine sialic acid levels serve as a biomarker for disease severity, with higher levels linked to higher mortality.<br /><br />Diagnosis of FSASD is based on clinical features, increased urinary sialic acid excretion, and brain MRI findings. Genetic testing confirms the presence of pathogenic variants in the SLC17A5 gene. Currently, there is no cure for FSASD, and treatment focuses on managing symptoms and providing support.<br /><br />FSASD is inherited in an autosomal recessive manner. More research is needed to further understand FSASD, and future directions include evaluating clinical presentations among the patient cohort, identifying potential biomarkers, and outlining parameters for future interventions and clinical trials.
Asset Subtitle
Presenting Author - Gabriella Grois, BS; Co-Author - Marla Sabaii, RN BSN; Co-Author - David R. Adams, MD, PhD; Co-Author - William A. Gahl, MD, Ph.D; Co-Author - Lynne Wolfe, MS, CRNP, BC;
Meta Tag
Brain/Nervous System
Delineation of Diseases
Genotype-Phenotype Correlations
Identification of Disease Genes
Intellectual disability
Lysosomal Diseases
Metabolic Disorder
Natural History
Phenotype
Phenotypic delineation of disorders
Co-Author
Marla Sabaii, RN BSN
Co-Author
David R. Adams, MD, PhD
Co-Author
William A. Gahl, MD, Ph.D
Co-Author
Lynne Wolfe, MS, CRNP, BC
Presenting Author
Gabriella Grois, BS
Keywords
Free Sialic Acid Storage Disorder
FSASD
lysosomal storage disorder
SLC17A5 gene
sialin
urinary sialic acid excretion
biomarkers
neurodegeneration
cognitive impairment
genetic testing
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