Arch Pediatr. 2022 Nov;29(8):599-603. doi: 10.1016/j.arcped.2022.08.005. Epub 2022 Sep 25.

C de Leusse ¹, C Roman ¹, B Roquelaure ¹, A Fabre ²

Author information

¹AP-HM, Hôpital de la Timone Enfants, Service de pédiatrie multidisciplinaire, Marseille, France.

²AP-HM, Hôpital de la Timone Enfants, Service de pédiatrie multidisciplinaire, Marseille, France; Aix Marseille Univ, INSERM, MMG, Marseille, France. Electronic address: alexandre.fabre@ap-hm.fr.

Abstract

Background: There are currently three known congenital disaccharidase deficiencies: congenital lactase deficiency (CLD), congenital sucrase-isomaltase deficiency (CSD), and congenital trehalase deficiency (CTD). No congenital deficiency has been described for maltase-glucoamylase (MGAM).

Methods: A literature search was performed in PubMed for the pathogenic variants CLD, CSD, and CTD and the articles retrieved were analyzed to estimate the prevalence of congenital disaccharidase deficiencies.

Results: Based on reported variants, the estimated prevalence was 1.3 per 10⁶ births (95% CI: 1.1-1.7) for CLD, and 31.4 per 10⁶ births (95% CI: 28.3-34.8) for CSD. Using data on previously reported variants and variants predicted to be loss-of-function in gnomAD, the overall estimated prevalence was 2.3 per 10⁶ births (95% CI: 1.9-2.9) for CLD, 57.6 per 10⁶ births (95% CI:52.5-63.2) for CSD, and 9.2 per 10⁶ births (95% CI: 2.5-3.7) for CTD.

Conclusion: The prevalence of CSD was found to be relatively high, while for other congenital disaccharidase deficiencies, the estimated prevalence was very low.