The fate of orally administered sialic acid: First insights from patients with N-acetylneuraminic acid synthase deficiency and control subjects

Tran, Christel; Turolla, Licia; Ballhausen, Diana; Buros, Sandrine Cornaz; Teav, Tony; Gallart-Ayala, Hector; Ivanisevic, Julijana; Faouzi, Mohamed; Lefeber, Dirk J; Ivanovski, Ivan; Giangiobbe, Sara; Caraffi, Stefano Giuseppe; Garavelli, Livia; Superti-Furga, Andrea

doi:10.1016/j.ymgmr.2021.100777

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Tran, C., Turolla, L., Ballhausen, D., Buros, S. C., Teav, T., Gallart-Ayala, H., Ivanisevic, J., Faouzi, M., Lefeber, D. J., Ivanovski, I., Giangiobbe, S., Caraffi, S. G., Garavelli, L., & Superti-Furga, A. (2021). The fate of orally administered sialic acid: First insights from patients with N-acetylneuraminic acid synthase deficiency and control subjects. Molecular Genetics and Metabolism Reports, 28, 100777. https://doi.org/10.1016/j.ymgmr.2021.100777

Abstract

Background

In NANS deficiency, biallelic mutations in the N-acetylneuraminic acid synthase (NANS) gene impair the endogenous synthesis of sialic acid (N-acetylneuraminic acid) leading to accumulation of the precursor, N-acetyl mannosamine (ManNAc), and to a multisystemic disorder with intellectual disability. The aim of this study was to determine whether sialic acid supplementation might be a therapeutic avenue for NANS-deficient patients.

Methods

Four adults and two children with NANS deficiency and four adult controls received o