THE JOURNAL OF PEDIATRICS
www.jpeds.com
30. Gioia GA, Isquith PK, Guy SC, Kenworthy L. Behavior rating inventory of executive function. Child Neuropsychol 2000;6:235-8. 31. Smits-Engelsman BCM. Movement Assessment Battery for Children. Lisse, The Netherlands: Swets & Zeitlinger; 1998. 32. Niklasson A, Albertsson-Wikland K. Continuous growth reference from 24th week of gestation to 24 months by gender. BMC Pediatr 2008;8:8. 33. Viggedal G, Lundalv E, Carlsson G, Kjellmer I. Neuropsychological follow-up into young adulthood of term infants born small for gestational age. Med Sci Monit 2004;10:CR8-16. 34. Theodore RF, Thompson JM, Waldie KE, Becroft DM, Robinson E, Wild CJ, et al. Determinants of cognitive ability at 7 years: a longitudinal case-control study of children born small-for-gestational age at term. Eur J Pediatr 2009;168:1217-24.
Vol. 166, No. 3 35. Leitner Y, Fattal-Valevski A, Geva R, Bassan H, Posner E, Kutai M, et al. Six-year follow-up of children with intrauterine growth retardation: long-term, prospective study. J Child Neurol 2000;15:781-6. 36. Sommerfelt K, Andersson HW, Sonnander K, Ahlsten G, Ellertsen B, Markestad T, et al. Cognitive development of term small for gestational age children at five years of age. Arch Dis Child 2000;83:25-30. 37. Evensen KA, Skranes J, Brubakk AM, Vik T. Predictive value of early motor evaluation in preterm very low birth weight and term small for gestational age children. Early Hum Dev 2009;85:511-8. 38. Sommerfelt K, Sonnander K, Skranes J, Andersson HW, Ahlsten G, Ellertsen B, et al. Neuropsychologic and motor function in small-forgestation preschoolers. Pediatr Neurol 2002;26:186-91.
50 Years Ago in THE JOURNAL OF PEDIATRICS Intestinal Glycosidase Activities in Congenital Malabsorption of Disaccharides Auricchio S, Rubino A, Prader A, Rey J, Jos J, Frezal J, Davidson M. J Pediatr 1965;66:555-64
I
n this report, Auricchio et al provided valuable insight into the glycosidase activity patterns responsible for the malabsorption of several disaccharides: lactose and sucrose/isomaltose. The threat of carbohydrate malabsorption to infant growth is significant and remains important to recognize. In their study, biopsies were obtained in 8 children with evidence of sucrose/isomaltose malabsorption, their parents, and from another child with known lactose malabsorption. In the children with sucrose/isomaltose malabsorption, maltase activity was decreased overall, although the extent of diminished activity differed among siblings and their parents. The isolated patient with lactose malabsorption showed normal maltase activity with diminished lactase activity. The authors concluded that these disorders of malabsorption “may be inherited as a gene of intermediate inheritance” with a variable phenotype depending on homozygosity or heterozygosity. We now know more regarding sucrose/isomaltose malabsorption and other disorders of carbohydrate malabsorption (congenital lactase deficiency,1 congenital glucose/galactose malabsorption2) since Auricchio et al reported their findings 5 decades ago. Sucrase/isomaltase deficiency is inherited in an autosomal recessive pattern and is a rare disorder mainly described in the Eskimo populations in Greenland and Alaska.3 Various mutations in the sucraseisomaltase gene lead to deficient transport of the enzyme or poor functionality. Phenotype varies as homozygotes will deal with malabsorption throughout life whereas heterozygotes usually only have symptoms during infancy.4 Small intestinal tissue measurement of disaccharidase activity remains the gold standard for diagnosis. Treatment involves avoiding sucrose/isomaltose in the diet. Today, advanced technology and novel genome sequencing techniques serve to solidify hypotheses presented decades earlier. We are grateful for contributions made by Auricchio et al in 1964 that established a foundation for further discovery regarding several important causes of severe osmotic diarrhea in infancy. David Galloway, MD Division of Pediatric Gastroenterology Cincinnati Children’s Hospital Medical Center Cincinnati, Ohio
References
http://dx.doi.org/10.1016/j.jpeds.2014.09.029
1. Torniainen S, Freddara R, Routi T, Gijsbers C, Catassi C, Hoglund P, et al. Four novel mutations in the lactase gene (LCT) underlying congenital lactase deficiency (CLD). BMC Gastroenterol 2009;9:8. 2. Martin MG, Turk E, Lostao MP, Kerner C, Wright EM. Defects in Na(+)/glucose cotransporter (SGLT1) trafficking and function cause glucosegalactose malabsorption. Nat Genet 1996;12:216-20. 3. Treem WR. Congenital sucrase-isomaltase deficiency. J Pediatr Gastroenterol Nutr 1995;21:1-14. 4. Baudon JJ, Veinberg F, Thioulouse E, Morgant G, Aymard P, Charritat JL. Sucrase isomaltase deficiency: changing pattern over two decades. J Pediatr Gastroenterol Nutr 1996;22:248-88.
558
Tanis et al
www.jpeds.com
30. Gioia GA, Isquith PK, Guy SC, Kenworthy L. Behavior rating inventory of executive function. Child Neuropsychol 2000;6:235-8. 31. Smits-Engelsman BCM. Movement Assessment Battery for Children. Lisse, The Netherlands: Swets & Zeitlinger; 1998. 32. Niklasson A, Albertsson-Wikland K. Continuous growth reference from 24th week of gestation to 24 months by gender. BMC Pediatr 2008;8:8. 33. Viggedal G, Lundalv E, Carlsson G, Kjellmer I. Neuropsychological follow-up into young adulthood of term infants born small for gestational age. Med Sci Monit 2004;10:CR8-16. 34. Theodore RF, Thompson JM, Waldie KE, Becroft DM, Robinson E, Wild CJ, et al. Determinants of cognitive ability at 7 years: a longitudinal case-control study of children born small-for-gestational age at term. Eur J Pediatr 2009;168:1217-24.
Vol. 166, No. 3 35. Leitner Y, Fattal-Valevski A, Geva R, Bassan H, Posner E, Kutai M, et al. Six-year follow-up of children with intrauterine growth retardation: long-term, prospective study. J Child Neurol 2000;15:781-6. 36. Sommerfelt K, Andersson HW, Sonnander K, Ahlsten G, Ellertsen B, Markestad T, et al. Cognitive development of term small for gestational age children at five years of age. Arch Dis Child 2000;83:25-30. 37. Evensen KA, Skranes J, Brubakk AM, Vik T. Predictive value of early motor evaluation in preterm very low birth weight and term small for gestational age children. Early Hum Dev 2009;85:511-8. 38. Sommerfelt K, Sonnander K, Skranes J, Andersson HW, Ahlsten G, Ellertsen B, et al. Neuropsychologic and motor function in small-forgestation preschoolers. Pediatr Neurol 2002;26:186-91.
50 Years Ago in THE JOURNAL OF PEDIATRICS Intestinal Glycosidase Activities in Congenital Malabsorption of Disaccharides Auricchio S, Rubino A, Prader A, Rey J, Jos J, Frezal J, Davidson M. J Pediatr 1965;66:555-64
I
n this report, Auricchio et al provided valuable insight into the glycosidase activity patterns responsible for the malabsorption of several disaccharides: lactose and sucrose/isomaltose. The threat of carbohydrate malabsorption to infant growth is significant and remains important to recognize. In their study, biopsies were obtained in 8 children with evidence of sucrose/isomaltose malabsorption, their parents, and from another child with known lactose malabsorption. In the children with sucrose/isomaltose malabsorption, maltase activity was decreased overall, although the extent of diminished activity differed among siblings and their parents. The isolated patient with lactose malabsorption showed normal maltase activity with diminished lactase activity. The authors concluded that these disorders of malabsorption “may be inherited as a gene of intermediate inheritance” with a variable phenotype depending on homozygosity or heterozygosity. We now know more regarding sucrose/isomaltose malabsorption and other disorders of carbohydrate malabsorption (congenital lactase deficiency,1 congenital glucose/galactose malabsorption2) since Auricchio et al reported their findings 5 decades ago. Sucrase/isomaltase deficiency is inherited in an autosomal recessive pattern and is a rare disorder mainly described in the Eskimo populations in Greenland and Alaska.3 Various mutations in the sucraseisomaltase gene lead to deficient transport of the enzyme or poor functionality. Phenotype varies as homozygotes will deal with malabsorption throughout life whereas heterozygotes usually only have symptoms during infancy.4 Small intestinal tissue measurement of disaccharidase activity remains the gold standard for diagnosis. Treatment involves avoiding sucrose/isomaltose in the diet. Today, advanced technology and novel genome sequencing techniques serve to solidify hypotheses presented decades earlier. We are grateful for contributions made by Auricchio et al in 1964 that established a foundation for further discovery regarding several important causes of severe osmotic diarrhea in infancy. David Galloway, MD Division of Pediatric Gastroenterology Cincinnati Children’s Hospital Medical Center Cincinnati, Ohio
References
http://dx.doi.org/10.1016/j.jpeds.2014.09.029
1. Torniainen S, Freddara R, Routi T, Gijsbers C, Catassi C, Hoglund P, et al. Four novel mutations in the lactase gene (LCT) underlying congenital lactase deficiency (CLD). BMC Gastroenterol 2009;9:8. 2. Martin MG, Turk E, Lostao MP, Kerner C, Wright EM. Defects in Na(+)/glucose cotransporter (SGLT1) trafficking and function cause glucosegalactose malabsorption. Nat Genet 1996;12:216-20. 3. Treem WR. Congenital sucrase-isomaltase deficiency. J Pediatr Gastroenterol Nutr 1995;21:1-14. 4. Baudon JJ, Veinberg F, Thioulouse E, Morgant G, Aymard P, Charritat JL. Sucrase isomaltase deficiency: changing pattern over two decades. J Pediatr Gastroenterol Nutr 1996;22:248-88.
558
Tanis et al
