Free sialic acid storage disorder: Progress and promise.
Hypomyelination
Infantile sialic acid storage disorder
Lysosomal membrane transporter
N-acetylneuraminic acid
SLC17A5
Salla disease
Sialic acid
Journal
Neuroscience letters
ISSN: 1872-7972
Titre abrégé: Neurosci Lett
Pays: Ireland
ID NLM: 7600130
Informations de publication
Date de publication:
11 06 2021
11 06 2021
Historique:
received:
14
01
2021
revised:
06
04
2021
accepted:
08
04
2021
pubmed:
17
4
2021
medline:
15
12
2021
entrez:
16
4
2021
Statut:
ppublish
Résumé
Lysosomal free sialic acid storage disorder (FSASD) is an extremely rare, autosomal recessive, neurodegenerative, multisystemic disorder caused by defects in the lysosomal sialic acid membrane exporter SLC17A5 (sialin). SLC17A5 defects cause free sialic acid and some other acidic hexoses to accumulate in lysosomes, resulting in enlarged lysosomes in some cell types and 10-100-fold increased urinary excretion of free sialic acid. Clinical features of FSASD include coarse facial features, organomegaly, and progressive neurodegenerative symptoms with cognitive impairment, cerebellar ataxia and muscular hypotonia. Central hypomyelination with cerebellar atrophy and thinning of the corpus callosum are also prominent disease features. Around 200 FSASD cases are reported worldwide, with the clinical spectrum ranging from a severe infantile onset form, often lethal in early childhood, to a mild, less severe form with subjects living into adulthood, also called Salla disease. The pathobiology of FSASD remains poorly understood and FSASD is likely underdiagnosed. Known patients have experienced a diagnostic delay due to the rarity of the disorder, absence of routine urine sialic acid testing, and non-specific clinical symptoms, including developmental delay, ataxia and infantile hypomyelination. There is no approved therapy for FSASD. We initiated a multidisciplinary collaborative effort involving worldwide academic clinical and scientific FSASD experts, the National Institutes of Health (USA), and the FSASD patient advocacy group (Salla Treatment and Research [S.T.A.R.] Foundation) to overcome the scientific, clinical and financial challenges facing the development of new treatments for FSASD. We aim to collect data that incentivize industry to further develop, obtain approval for, and commercialize FSASD treatments. This review summarizes current aspects of FSASD diagnosis, prevalence, etiology, and disease models, as well as challenges on the path to therapeutic approaches for FSASD.
Identifiants
pubmed: 33862140
pii: S0304-3940(21)00274-3
doi: 10.1016/j.neulet.2021.135896
pmc: PMC8175077
mid: NIHMS1701408
pii:
doi:
Substances chimiques
Organic Anion Transporters
0
Symporters
0
sialic acid transport proteins
0
N-Acetylneuraminic Acid
GZP2782OP0
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
135896Subventions
Organisme : NICHD NIH HHS
ID : P50 HD105352
Pays : United States
Organisme : NICHD NIH HHS
ID : R01 HD045561
Pays : United States
Organisme : NICHD NIH HHS
ID : U54 HD090260
Pays : United States
Organisme : Intramural NIH HHS
ID : Z01 HG000215
Pays : United States
Investigateurs
David R Adams
(DR)
Kostantin Dobrenis
(K)
Jessica Foglio
(J)
William A Gahl
(WA)
Bruno Gasnier
(B)
Mary Hackbarth
(M)
Marjan Huizing
(M)
Monkol Lek
(M)
May C V Malicdan
(MCV)
Liisa E Paavola
(LE)
Marc C Patterson
(MC)
Richard Reimer
(R)
Steven U Walkley
(SU)
Melissa Wasserstein
(M)
Raymond Y Wang
(RY)
Roberto Zoncu
(R)
Informations de copyright
Copyright © 2021. Published by Elsevier B.V.
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