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Congenital sucrase-isomaltase deficiency: diagnostic challenges and response to enzyme replacement therapy.
Arch Dis Child. 2015 Sep; 100(9):869-71.AD

Abstract

Congenital sucrase-isomaltase (SI) deficiency is a rare genetic condition characterised by a deficiency in the brush-border SI enzyme, resulting in an inability to metabolise sucrose and starches. Six cases of congenital SI deficiency treated with Sucraid (sacrosidase, a yeast-derived enzyme that facilitates sucrose digestion) are described. Typical presenting symptoms were watery diarrhoea, abdominal pain and bloating, sometimes noticeably worse after ingestion of fruit. Diagnosis is challenging since conventional hydrogen breath testing after an oral sucrose load is impractical in young children, and many laboratories no longer look for maldigested sucrose using faecal sugar chromatography. Confirmation is by disaccharidase assay of duodenal or jejunal mucosa obtained endoscopically. All six patients showed little improvement following advice regarding dietary management, but experienced a marked reduction in symptoms with sacrosidase administration; no adverse events were reported. Sacrosidase is an effective and well-tolerated treatment for patients with congenital SI deficiency. Gene testing and clinical trial of sacrosidase may become an alternative to endoscopic biopsies for diagnosis.

Authors+Show Affiliations

Department of Paediatric Gastroenterology, The General Infirmary at Leeds, Leeds, West Yorkshire, UK.Department of Paediatric Gastroenterology, The General Infirmary at Leeds, Leeds, West Yorkshire, UK.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

26163121

Citation

Puntis, J W L., and V Zamvar. "Congenital Sucrase-isomaltase Deficiency: Diagnostic Challenges and Response to Enzyme Replacement Therapy." Archives of Disease in Childhood, vol. 100, no. 9, 2015, pp. 869-71.
Puntis JW, Zamvar V. Congenital sucrase-isomaltase deficiency: diagnostic challenges and response to enzyme replacement therapy. Arch Dis Child. 2015;100(9):869-71.
Puntis, J. W., & Zamvar, V. (2015). Congenital sucrase-isomaltase deficiency: diagnostic challenges and response to enzyme replacement therapy. Archives of Disease in Childhood, 100(9), 869-71. https://doi.org/10.1136/archdischild-2015-308388
Puntis JW, Zamvar V. Congenital Sucrase-isomaltase Deficiency: Diagnostic Challenges and Response to Enzyme Replacement Therapy. Arch Dis Child. 2015;100(9):869-71. PubMed PMID: 26163121.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Congenital sucrase-isomaltase deficiency: diagnostic challenges and response to enzyme replacement therapy. AU - Puntis,J W L, AU - Zamvar,V, Y1 - 2015/07/10/ PY - 2015/02/05/received PY - 2015/06/19/accepted PY - 2015/7/12/entrez PY - 2015/7/15/pubmed PY - 2015/11/10/medline KW - Gastroenterology KW - Growth KW - Infant Feeding KW - Metabolic KW - Paediatric Practice SP - 869 EP - 71 JF - Archives of disease in childhood JO - Arch. Dis. Child. VL - 100 IS - 9 N2 - Congenital sucrase-isomaltase (SI) deficiency is a rare genetic condition characterised by a deficiency in the brush-border SI enzyme, resulting in an inability to metabolise sucrose and starches. Six cases of congenital SI deficiency treated with Sucraid (sacrosidase, a yeast-derived enzyme that facilitates sucrose digestion) are described. Typical presenting symptoms were watery diarrhoea, abdominal pain and bloating, sometimes noticeably worse after ingestion of fruit. Diagnosis is challenging since conventional hydrogen breath testing after an oral sucrose load is impractical in young children, and many laboratories no longer look for maldigested sucrose using faecal sugar chromatography. Confirmation is by disaccharidase assay of duodenal or jejunal mucosa obtained endoscopically. All six patients showed little improvement following advice regarding dietary management, but experienced a marked reduction in symptoms with sacrosidase administration; no adverse events were reported. Sacrosidase is an effective and well-tolerated treatment for patients with congenital SI deficiency. Gene testing and clinical trial of sacrosidase may become an alternative to endoscopic biopsies for diagnosis. SN - 1468-2044 UR - https://www.unboundmedicine.com/medline/citation/26163121/Congenital_sucrase_isomaltase_deficiency:_diagnostic_challenges_and_response_to_enzyme_replacement_therapy_ L2 - http://adc.bmj.com/cgi/pmidlookup?view=long&pmid=26163121 DB - PRIME DP - Unbound Medicine ER -