Heterozygotes Are a Potential New Entity among Homozygotes and Compound Heterozygotes in Congenital Sucrase-Isomaltase Deficiency

Heterozygotes Are a Potential New Entity among Homozygotes and Compound Heterozygotes in Congenital Sucrase-Isomaltase Deficiency

Congenital sucrase-isomaltase deficiency (CSID) is an autosomal recessive disorder of carbohydrate maldigestion and malabsorption caused by mutations in the sucrase-isomaltase (SI) gene. SI, together with maltase-glucoamylase (MGAM), belongs to the enzyme family of disaccharidases required for break...

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Bibliographic Details
Main Authors: Diab M. Husein, Dalanda Wanes, Lara M. Marten, Klaus-Peter Zimmer, Hassan Y. Naim
Format: Article
Language:English
Published: MDPI AG 2019-09-01
Series:Nutrients
Subjects:
congenital sucrase-isomaltase deficiency
intestinal brush border membrane
protein trafficking phenotypes
homozygote
compound heterozygote
heterozygote
Online Access:https://www.mdpi.com/2072-6643/11/10/2290

Internet

https://www.mdpi.com/2072-6643/11/10/2290

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