Congenital glucose-galactose malabsorption (CGGM) is a rare disease characterized by severe diarrhea, dehydration and weight loss.

A new study published inthe Journal of Pediatrics and Child Health aimed to better understand CGGM.

The study entailed a review of reports of CGGM published from 2001-2019, using PubMed, Ovid Medline, Springer, Wanfang Database, CBMD database and CKNI database. The clinical features, diagnosis, treatment and prognosis of CGGM in these reports were obtained and analyzed.

Overall, 107 cases were reviewed. Out of 55 cases from Saudi Arabia and Turkey; 78.2% were from consanguineous marriages; and 73.1% were infants. Dehydration, diarrhea and weight loss occurred in almost all cases. Half of the patients presented with hypernatremia and abdominal distension; vomiting, polyuria/hematuria and fever were reported in 11, 7 and 3 cases, respectively. Meanwhile, 18.7% cases showed hypercalcemia or nephrolithiasis. Stool pH was tested in 40.2% of the patients. While 51.4% were diagnosed for more than one month after the onset of symptoms. However, two patients (1.9%) died, one needed amputation, and the remaining 97.2% recovered with fructose formula. Furthermore, 68.2% patients underwent gene testing—30 SLC5A1 gene mutations were detected – with 23 cases homozygous and seven heterozygous mutation.

The findings indicated that clinical characteristics of CGGM are nonspecific and the diagnosis method is not conventionally applied. Fasting and gene testing are the two most important diagnostic methods. It was inferred that the best treatment of CGGM is supplementation with fructose-based formula.

Source: Journal of Pediatrics and Child Health. 2020 Sep 18. doi: 10.1111/jpc.14702.