Congenital and Putatively Acquired Forms of Sucrase‐isomaltase Deficiency in Infancy: Effects of Sacrosidase Therapy

Lücke, Thomas; Keiser, Markus; Illsinger, Sabine; Lentze, Michael J.; Naim, Hassan Y.

doi:10.1097/mpg.0b013e3181a4c0df

Cited by 17 publications

(9 citation statements)

References 17 publications

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“…The recent approval of an enzyme replacement therapy has allowed liberalization of the previously mandatory sucrose restrictive diet and restored a more normal lifestyle, particularly to infants and young children exposed to a high carbohydrate diet (45). Further modifications of this therapy with the possible additions of enzymes geared to supplement higher maltase and glycoamylase activity may be in the offing to help patients cope with the continued problem of starch malabsorption.…”

Section: Discussionmentioning

confidence: 97%

Clinical Aspects and Treatment of Congenital Sucrase‐Isomaltase Deficiency

Treem

2012

J. pediatr. gastroenterol. nutr.

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Section: Discussionmentioning

confidence: 97%

Clinical Aspects and Treatment of Congenital Sucrase‐Isomaltase Deficiency

Treem

2012

J. pediatr. gastroenterol. nutr.

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“…It helps to relieve the gastrointestinal symptoms with no side effects and allows patients to maintain a normal diet. 4,9,10 Nonetheless, sacrosidase is not available in every country and importing it may be quite expensive.…”

Section: Discussionmentioning

confidence: 99%

Congenital sucrase–isomaltase deficiency: A case report

Silva¹,

Tavares²,

Trindade³

et al. 2014

GE Portuguese Journal of Gastroenterology

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Background: Congenital sucrase---isomaltase deficiency (CSID) is an autosomal recessive disease characterized by absent sucrase activity with variable decrease in isomaltase activity. The prevalence of CSID in Portuguese population is unknown and there are few reported cases. Case report: We report the case of a six-month-old male infant admitted for chronic profuse diarrhea and failure to thrive that began after food diversification. The investigation showed that he had CSID. The therapeutic option was the addition of baker's yeast to the diet which was followed by complete resolution of symptoms and excellent weight recovery. Discussion: This case highlights the relevance of clinical observation and awareness in a condition where diagnosis is essentially clinical. The available therapeutic options are addressed with pragmatic use of baker's yeast.Deficiência congénita de sacarase-isomaltase; Sacrosidase; Fermento; Saccharomyces cerevisiae Défice congénito de sacarase-isomaltase: relato de um caso Resumo Introdução: O défice congénito de sacarase-isomaltase é uma doença autossómica recessiva caraterizada pela ausência da atividade da sacarase e diminuição variável da atividade da isomaltase. A prevalência desta patologia na população portuguesa é desconhecida e há poucos casos divulgados.Abbreviations: CSID, congenital sucrase---isomaltase deficiency; DNA, deoxyribonucleic acid; IgE, immunoglobulin; EPCR, polymerase chain reaction; SI, sucrase---isomaltase.Congenital sucrase---isomaltase deficiency 251 Relato de caso: Lactente masculino de 6 meses, internado para estudo de diarreia crónica profusa coincidente com o início da diversificação alimentar e associada a má evolução ponderal. A investigação mostrou tratar-se de uma deficiência congénita de sacarase-isomaltase. A medida terapêutica escolhida foi a adição de fermento de padeiro na dieta, com resolução da sintomatologia e excelente recuperação ponderal. Discussão: Discute-se a importância de uma elevada suspeição clínica numa patologia cujo diagnóstico é essencialmente clínico e também as opções terapêuticas disponíveis, com ênfase no uso do fermento de padeiro.

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“…The probiotic delivery of additional sucrase activity to the lower intestine during either initial or ongoing miglustat therapy has been suggested as a way to enhance GI adaptation. A purified formulation of the saccharomyces cerevisiae-derived invertase, sacrosidase (Sucraid®), was shown to be beneficial in patients with congenital sucrase-isomaltase deficiency – a condition where patients experience GI symptoms that are analogous to those observed in miglustat-treated patients [ 24 , 25 ] – and was also successful in alleviating diarrhea in a pediatric NP-C patient (Marquardt T, personal communication). Administration of lyophilized S. cerevisiae (Baker‘s yeast) has also been reported to improve clinical symptoms in children with congenital sucrase-isomaltase deficiency [ 26 ].…”

Section: Introductionmentioning

confidence: 99%

A double-blind, randomized, placebo-controlled trial studying the effects of Saccharomyces boulardii on the gastrointestinal tolerability, safety, and pharmacokinetics of miglustat

Remeňová

Morand

Amato

et al. 2015

Orphanet J Rare Dis

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BackgroundGastrointestinal (GI) disturbances such as diarrhea and flatulence are the most frequent adverse effects associated with miglustat therapy in type 1 Gaucher disease (GD1) and Niemann-Pick disease type C (NP-C), and the most common recorded reason for stopping treatment during clinical trials and in clinical practice settings. Miglustat-related GI disturbances are thought to arise from the inhibition of intestinal disaccharidases, mainly sucrase isomaltase. We report the effects of a co-administered dietary probiotic, S. boulardii, on the GI tolerability of miglustat in healthy adult subjects.MethodsIn a double-blind, placebo-controlled, two-period, two-treatment cross-over trial, healthy adult male and female subjects were randomly allocated to treatment sequences, A–B and B–A (treatment A - miglustat 100 mg t.i.d. + placebo; treatment B - miglustat 100 mg t.i.d. + S. boulardii [500 mg, b.i.d.]). GI tolerability data were collected in patient diaries. The primary endpoint was the total number of ‘diarrhea days’ (≥3 loose stools within a 24-h period meeting Bristol Stool Scores [BSS] 6–7) based on WHO criteria. Secondary endpoints comprised numerous other diarrhea and GI tolerability indices.ResultsTwenty-one subjects received randomized therapy in each treatment sequence (total N = 42), and overall, 37 (88 %) subjects completed the study. The total number of diarrhea days was <1.5 for both treatment sequences, and approximately 60 % of subjects did not experience diarrhea during either treatment period. The mean (SD) number of diarrhea days was lower with miglustat + S. boulardii (0.8 [2.4] days) than with miglustat + placebo (1.3 [2.4] days), but the paired treatment difference was not statistically significant (−0.5 [2.4] days; p = 0.159). However, a significant treatment difference (−0.7 [1.9]; p < 0.05) was identified after post hoc exclusion of a clear outlier who had a very high number of diarrhea days (n = 13) and inconsistent GI tolerability reporting. The incidence of the GI AEs was higher with miglustat + placebo (82 %) than with miglustat + S. boulardii (73 %). There were no between-treatment differences in miglustat pharmacokinetics.ConclusionsAlthough the primary endpoint was not met, the results of the post-hoc analysis suggest that co-administration of miglustat with S. boulardii might improve GI tolerability.

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Congenital and Putatively Acquired Forms of Sucrase‐isomaltase Deficiency in Infancy: Effects of Sacrosidase Therapy

Cited by 17 publications

References 17 publications

Clinical Aspects and Treatment of Congenital Sucrase‐Isomaltase Deficiency

Clinical Aspects and Treatment of Congenital Sucrase‐Isomaltase Deficiency

Congenital sucrase–isomaltase deficiency: A case report

A double-blind, randomized, placebo-controlled trial studying the effects of Saccharomyces boulardii on the gastrointestinal tolerability, safety, and pharmacokinetics of miglustat

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