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Extracellular Glucose Depletion as an Indirect Measure of Glucose Uptake in Cells and Tissues Ex Vivo
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Literature review on congenital glucose-galactose malabsorption from 2001 to 2019

Weiyan Wang1, Liang Wang2, Ming Ma3

  • 1Department of Neonates, Children's Hospital, Zhejiang University, School of Medicine, Hangzhou, China.

Journal of Paediatrics and Child Health
|September 18, 2020
PubMed

Insights

Congenital glucose-galactose malabsorption (CGGM) is a rare condition causing severe infant symptoms. Fructose-based formula is the recommended treatment, with fasting and gene testing crucial for diagnosis.

Area of Science:

  • Pediatrics
  • Gastroenterology
  • Genetics

Background:

  • Congenital glucose-galactose malabsorption (CGGM) is a rare inherited disorder.
  • It presents with severe gastrointestinal distress, dehydration, and failure to thrive in infants.
  • Understanding its clinical spectrum and management is vital for early intervention.

Purpose of the Study:

  • To review and analyze case reports of CGGM from 2001-2019.
  • To elucidate the clinical features, diagnostic approaches, and treatment outcomes of CGGM.
  • To identify key diagnostic markers and effective therapeutic strategies.

Main Methods:

  • Systematic literature review of CGGM cases published between 2001 and 2019.
  • Data extraction from databases including PubMed, Ovid Medline, Springer, Wanfang, CBMD, and CKNI.
  • Analysis of clinical presentation, diagnostic methods, treatment interventions, and patient prognosis.

Main Results:

  • 107 cases were reviewed; 78.2% of cases from Saudi Arabia and Turkey were from consanguineous marriages.
  • Dehydration, diarrhea, and weight loss were near-universal; 18.7% had hypercalcemia or nephrolithiasis.
  • Diagnosis was delayed in over 50% of cases; 97.2% recovered with fructose formula, while gene testing revealed numerous SLC5A1 mutations.

Conclusions:

  • CGGM exhibits nonspecific clinical characteristics, often leading to diagnostic delays.
  • Fasting and genetic testing (SLC5A1 mutations) are critical for accurate diagnosis.
  • Supplementation with fructose-based formula is the primary and effective treatment for CGGM.
Abstract

Keywords:
SLC5A1fructoseglucose-galactose malabsorptionhypercalcaemiahypernatraemianephrocalcinosis

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