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Free sialic acid storage disorder: Progress and promise
Marjan Huizing1, Mary E Hackbarth1, David R Adams1
1Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, United States.
Neuroscience Letters
|April 16, 2021
Summary
Lysosomal free sialic acid storage disorder (FSASD) is a rare neurodegenerative disease caused by SLC17A5 defects. This review highlights diagnostic challenges and the urgent need for developing effective FSASD therapies.
Area of Science:
- Biochemistry
- Genetics
- Neurology
Background:
- Lysosomal free sialic acid storage disorder (FSASD) is a rare, autosomal recessive neurodegenerative disease.
- It results from defects in the SLC17A5 (sialin) gene, leading to sialic acid accumulation in lysosomes.
- Clinical manifestations include coarse facial features, organomegaly, and progressive neurological decline.
Purpose of the Study:
- To review current knowledge on FSASD diagnosis, prevalence, etiology, and disease models.
- To identify challenges hindering the development of therapeutic approaches for FSASD.
- To foster a collaborative effort to incentivize industry in developing FSASD treatments.
Main Methods:
- Multidisciplinary collaboration involving global FSASD experts, NIH, and the Salla Treatment and Research (S.T.A.R.) Foundation.
- Review of existing literature on FSASD.
- Data collection to support therapeutic development.
Main Results:
- FSASD is characterized by lysosomal accumulation of free sialic acid and increased urinary excretion.
- Diagnostic delays are common due to rarity, lack of routine testing, and non-specific symptoms.
- No approved therapies currently exist for FSASD.
Conclusions:
- FSASD pathobiology is poorly understood, and the disorder is likely underdiagnosed.
- Significant scientific, clinical, and financial challenges impede therapeutic development.
- A concerted effort is needed to advance treatment options for FSASD patients.
Keywords:
HypomyelinationInfantile sialic acid storage disorderLysosomal membrane transporterN-acetylneuraminic acidSLC17A5Salla diseaseSialic acidMore Related Videos
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