Prevalence of congenital sucrase-isomaltase deficiency in Turkey may be much higher than the estimates

Taşkın, Didem Gülcü; Civan, Hasret Ayyıldız; Sarı, Emine Ergül; Altuntaş, Cansu; Ersoy, Melike; Tuncel, Tolga; Önay, Hüseyin; Selimoğlu, Ayşe

doi:10.1007/s12041-023-01428-8

Cited by 2 publications

(1 citation statement)

References 17 publications

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“…Taskin and colleagues found 11 SI gene variants among 94 chronic diarrhea patients. It's worth noting that eight patients with heterozygous and VUS variants improved with sacrosidase treatment 15 …”

Section: Discussionmentioning

confidence: 99%

Exploring genetic variants in congenital monosaccharide‐disaccharide metabolism: Carrier ratios and phenotypic insights

Akcan,

Silan

2024

J. pediatr. gastroenterol. nutr.

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ObjectivesAdverse food reactions, often underestimated, encompass congenital monosaccharide‐disaccharide metabolism disorders, yielding diverse outcomes such as abdominal pain, diarrhea, bleeding disorders, and even death. This study retrospectively scrutinized genetic variants linked to these disorders in a cohort subjected to whole‐exome sequence analysis (WES), determining carrier frequencies and genotype‐phenotype correlations.MethodsData from 484 patients, were retrospectively analyzed using a gene panel (ALDOB, FBP1, GALE, GALK1, GALM, GALT, LCT, SLC2A2, SLC5A1, SI) for congenital monosaccharide‐disaccharide metabolism disorders. WES was performed on patients using the xGen Exome Research Panel v2 kit, utilizing Next Generation Sequence Analysis (NGS). The study encompassed pathogenic, likely pathogenic, and variant of uncertain significance (VUS) variants.ResultsAmong 484 patients (244 female, 240 male), 17.35% carried 99 variants (67 distinct) in the analyzed genes. Pathogenic/likely pathogenic allele frequency stood at 0.013, while VUS allele frequency was 0.088. Notably, 44% (37/84) of patients harboring mutations manifested at least one relevant phenotype. Carriage frequencies ranged from 1:25 (SI gene) to 1:968 (GALE gene), with the estimated disease frequency spanning from 1:2500 to 1:3748000.ConclusionsOur study underscores clinical manifestations in heterozygous carriers of recessive genetic disorders, addressing gaps in carrier frequencies and phenotypic effects for congenital monosaccharide‐disaccharide metabolism disorders. This knowledge can improve these conditions' diagnosis and management, potentially preventing adverse food reactions and their associated complications.

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Section: Discussionmentioning

confidence: 99%