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[Glucose-galactose malabsorption. The first reported case in Denmark].

K A Boisen¹, K Hjelt

¹Børneafdelingen, Centralsygehuset i Holbaek.

Ugeskrift for Laeger

|July 14, 1999

Summary

The first Danish case of glucose-galactose malabsorption (GGM), a serious genetic disorder causing severe diarrhea in newborns, was identified. Early diagnosis and a specialized diet are crucial for normal development.

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Area of Science:

Genetics
Pediatrics
Gastroenterology

Background:

Glucose-galactose malabsorption (GGM) is a rare, inherited metabolic disorder.
It presents in newborns with severe osmotic diarrhea, potentially leading to fatal dehydration.
The condition stems from a defect in the sodium-glucose co-transporter 1 (SGLT1) in the jejunal brush border.

Observation:

This report details the first diagnosed case of GGM in Denmark.
The patient presented with typical neonatal symptoms of the disorder.

Findings:

Diagnosis was confirmed through an oral glucose tolerance test and analysis of stool reducing substances.
Genetic analysis can further substantiate the diagnosis of this SGLT1 transporter defect.

Implications:

Early identification and intervention are critical for managing GGM.
A lifelong dietary restriction of glucose and galactose allows affected individuals to develop normally.
This case highlights the importance of recognizing GGM in neonatal diarrhea diagnostics in Denmark.

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