The fate of orally administered sialic acid: First insights from patients with
Brain gangliosides
Developmental delay
NANS deficiency
Nutrition therapy
Sialic acid
Journal
Molecular genetics and metabolism reports
ISSN: 2214-4269
Titre abrégé: Mol Genet Metab Rep
Pays: United States
ID NLM: 101624422
Informations de publication
Date de publication:
Sep 2021
Sep 2021
Historique:
received:
16
04
2021
revised:
15
06
2021
accepted:
15
06
2021
entrez:
14
7
2021
pubmed:
15
7
2021
medline:
15
7
2021
Statut:
epublish
Résumé
In NANS deficiency, biallelic mutations in the Four adults and two children with NANS deficiency and four adult controls received oral NeuNAc acid (150 mg/kg/d) over three days. Total NeuNAc, free NeuNAc and ManNAc were analyzed in plasma and urine at different time points. Upon NeuNAc administration, plasma free NeuNAc increased within hours ( Orally administered free NeuNAc was rapidly absorbed but also rapidly excreted in the urine. It did not change ManNAc levels in either patients or controls, indicating that it may not achieve enough feedback inhibition to reduce ManNAc accumulation in NANS-deficient subjects. Within the limitations of this study these results do not support a potential for oral free NeuNAc in the treatment of NANS deficiency but they provide a basis for further therapeutic approaches in this condition.
Sections du résumé
BACKGROUND
BACKGROUND
In NANS deficiency, biallelic mutations in the
METHODS
METHODS
Four adults and two children with NANS deficiency and four adult controls received oral NeuNAc acid (150 mg/kg/d) over three days. Total NeuNAc, free NeuNAc and ManNAc were analyzed in plasma and urine at different time points.
RESULTS
RESULTS
Upon NeuNAc administration, plasma free NeuNAc increased within hours (
DISCUSSION
CONCLUSIONS
Orally administered free NeuNAc was rapidly absorbed but also rapidly excreted in the urine. It did not change ManNAc levels in either patients or controls, indicating that it may not achieve enough feedback inhibition to reduce ManNAc accumulation in NANS-deficient subjects. Within the limitations of this study these results do not support a potential for oral free NeuNAc in the treatment of NANS deficiency but they provide a basis for further therapeutic approaches in this condition.
Identifiants
pubmed: 34258226
doi: 10.1016/j.ymgmr.2021.100777
pii: S2214-4269(21)00071-9
pmc: PMC8251509
doi:
Types de publication
Journal Article
Langues
eng
Pagination
100777Informations de copyright
© 2021 The Authors.
Déclaration de conflit d'intérêts
The authors declare no potential conflict of interest.
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