Phenotypic and genotypic description of GMPPA-congenital disorder of glycosylation: A review of 26 cases.

ABSTRACT: GMPPA-Congenital Disorder of Glycosylation (CDG) is an ultra-rare autosomal recessive CDG caused by pathogenic variants in GMPPA that affects the N-linked glycosylation pathway. Affected individuals present with three major symptoms: achalasia, alacrima, and impaired intellectual development during infancy. Current management of GMPPA-CDG is targeted to address patients' symptoms. To date, 23 individuals have been reported with GMPPA-CDG. This paper reviews the clinical, biochemical and genetic characteristics of the reported 23 patients and adds 3 patients with GMPPA-CDG. We also describe the effect of oral N-acetylglucosamine (GlcNAc) supplementation in 3 patients. Besides alacrima, achalasia and developmental/ intellectual disability, we noted in these patients also variable growth impa

SUBMITTER: Altassan R 

PROVIDER: S-EPMC12746796 | biostudies-literature | 2025 Sep-Oct

REPOSITORIES: biostudies-literature