DMP1-CDG (CDG1e) with Significant Gastrointestinal Manifestations; Phenotype and Genotype Expansion.

Area of Science:

• Biochemistry
• Genetics
• Pediatrics

Background:

• Mutations in the DPM1 gene cause DPM1-Congenital Disorder of Glycosylation (DPM1-CDG).
• DPM1-CDG typically presents with early-onset seizures, microcephaly, developmental delay, and abnormal biochemical findings.
• Previous literature documents eight cases of DPM1-CDG.

Purpose of the Study:

• To report the ninth case of DPM1-CDG.
• To describe a novel and severe gastrointestinal manifestation in DPM1-CDG.
• To highlight the association between DPM1-CDG and food protein-induced enterocolitis syndrome (FPIES).

Main Methods:

• Clinical case presentation and detailed patient history.
• Review of existing literature on DPM1-CDG and congenital glycosylation disorders.
• Analysis of clinical phenotype, including neurological and gastrointestinal symptoms.

Main Results:

• The ninth patient with DPM1-CDG presented with severe gastrointestinal involvement, specifically FPIES.
• This represents the first reported instance of a congenital glycosylation disorder associated with FPIES.
• Other reported DPM1-CDG symptoms like seizures, microcephaly, and developmental delay were also observed.

Conclusions:

• DPM1-CDG can manifest with severe gastrointestinal complications, including FPIES.
• Congenital glycosylation disorders should be considered in infants with unexplained FPIES.
• Further research is needed to understand the mechanisms linking DPM1-CDG and gastrointestinal dysfunction.