Glucose-galactose malabsorption: a case report

Report of Health Care

مقاله 8، دوره 1، شماره 1، اسفند 2014، صفحه 47-48   

نویسندگان

Farid Imanzade¹؛ Aliakbar Sayarri¹؛ Abdolhamid Sharifian²؛ Pantea Tajik^{* 3}

¹Professor of Children Gastroenterology, Gastroenterology Unit, Mofid Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran

²Assistance Professor, Board of Surgery, Academy of Medical Sciences, Tehran, Iran

³Fellow of Children Gastroenterology, Gastroenterology Unit, Mofid Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran

تاریخ دریافت: 31 اردیبهشت 1393،  تاریخ بازنگری: 19 آذر 1393،  تاریخ پذیرش: 23 آذر 1393 

چکیده

Glucose-Galactose Malabsorption (GGM) is one of the rare autosomal recessive disorders of intestinal transport of glucose and galactose/Na+cotransport system (SGLT1) that leads to osmotic watery diarrhea, dehydration, failure to thrive, or early death. It is caused by mutations in the gene coding for the intestinal brush border of sodium-glucose co-transporter. More than 30 different mutations in this gene have been found to cause abnormalities in the transporter. Because of the wide number of mutations known today, genetic testing for defects is difficult, leaving clinicians to rely on clinical testing, including the glucose or galactose hydrogen breath test as a diagnostic test of choice. Treatment includes the elimination of glucose and galactose from diet. We report a male infant with suspected GGM with acidosis and diarrhea.

کلیدواژه‌ها

Glucose-galactose malabsorption؛ Symptoms؛ treatment

مراجع

1. Diez-Sampedro A, Hirayama BA, Osswald C, Gorboulev V, Baumgarten K, Volk C, et al. A glucose sensor hiding in a family of transporters. Proc Natl Acad Sci U S A 2003; 100(20): 11753-8.

2. Assiri A, Saeed A, Alnimri A, Ahmad S, Saeed E, Jameel S. Five Arab children with glucose-galactose malabsorption. Paediatr Int Child Health 2013; 33(2): 108-10.

3. Vallaeys L, Van Biervliet S, De Bruyn G, Loeys B, Moring AS, Van Deynse E, et al. Congenital glucose-galactose malabsorption: a novel deletion within the SLC5A1 gene. Eur J Pediatr 2013; 172(3): 409-11.

4. Raja M, Kinne RK. Structural insights into genetic variants of Na(+)/glucose cotransporter SGLT1 causing glucose-galactose malabsorption: vSGLT as a model structure. Cell Biochem Biophys 2012; 63(2): 151-8.

5. Boisen KA, Hjelt K. [Glucose-galactose malabsorption. The first reported case in Denmark].Ugeskr Laeger 1999; 161(26): 4008-9. [In Danish]

6. Lam JT, Martín MG, Turk E, Hirayama BA, Bosshard NU, Steinmann B, et al. Missense mutations in SGLT1 cause glucose-galactose malabsorption by trafficking defects. Biochim Biophys Acta 1999; 1453(2): 297-303.

7. Martín MG, Turk E, Lostao MP, Kerner C, Wright EM. Defects in Na+/glucose cotransporter (SGLT1) trafficking and function cause glucose-galactose malabsorption. Nat Genet 1996; 12(2): 216-20.

8. Turk E, Zabel B, Mundlos S, Dyer J, Wright EM.Glucose/galactose malabsorption caused by a defect in the Na+/glucose cotransporter. Nature 1991; 350(6316): 354-6.

9. El-Naggar W, Balfe JW, Barbar M, Taha D. Nephrocalcinosis in glucose-galactose malabsorption, association with renal tubular acidosis. Pediatr Nephrol 2005; 20(9): 1336-9.

10. James WP. Comparison of three methods used in assessment of carbohydrate absorption in malnourished children. Arch Dis Child 1972; 47(254): 531-6.