ArticleBMC pediatrics2002
Congenital sucrase-isomaltase deficiency presenting with failure to thrive, hypercalcemia, and nephrocalcinosis.
Article in BMC pediatrics, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 40 citations in OpenAlex.
- Mutational Landscape of Primary Hyperoxaluria in Morocco: Update and Implications for Diagnosis.Genes · 2026Article
- Congenital Lactase Deficiency, An Unusual Cause of Infantile Hypercalcemia.Indian journal of pediatrics · 2025Article
- Recurrent calcium oxalate calculi: the culprit in disguise.Pediatric nephrology (Berlin, Germany) · 2025Article
- Severe Hypercalcemia in an Infant With Transient Disaccharidase Deficiency.JCEM case reports · 2024Article
- Congenital Sucrase-Isomaltase Deficiency: Same Mutation with Different Clinical Presentations.The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology · 2024Article
- Review of childhood genetic nephrolithiasis and nephrocalcinosis.Frontiers in genetics · 2024Review
- The patient journey to diagnosis and treatment of congenital sucrase-isomaltase deficiency.Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation · 2021Observational
- Carbohydrate Intolerance and Disaccharidase Measurement - a Mini-Review.The Clinical biochemist. Reviews · 2019Review
- Hypercalcemic Disorders in Children.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2017Review
- The multiple roles of sucrase-isomaltase in the intestinal physiology.Molecular and cellular pediatrics · 2016Article
- Hypercalcemia in children and adolescents.Current opinion in pediatrics · 2010Review
- Nephrocalcinosis in glucose-galactose malabsorption: nephrocalcinosis and proximal tubular dysfunction in a young infant with a novel mutation of SGLT1.European journal of pediatrics · 2008Article
- Neonatal congenital microvillus atrophy.Postgraduate medical journal · 2004Review
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundDisaccharide Intolerance Type I (Mendelian Interance in Man database: *222900) is a rare inborn error of metabolism resulting from mutation in sucrase-isomaltase (Enzyme Catalyzed 3.2.1.48). Usually, infants with SI deficiency come to attention because of chronic diarrhea and nutritional evidence of malabsorption. CASE PRESENTATION: We describe an atypical presentation of this disorder in a 10-month-old infant. In addition to chronic diarrhea, the child displayed severe and chronic hypercalcemia, the evaluation of which was negative. An apparently coincidental right orbital hemangioma was detected. Following identification of the SI deficiency, an appropriately sucrose-restricted, but normal calcium diet regimen was instituted which led to cessation of diarrhea, substantial weight gain, and resolution of hypercalcemia.
conclusionsThis case illustrates that, similar to congenital lactase deficiency (Mendelian Interance in Man database: *223000, Alactasia, Hereditary Disaccharide Intolerance Type II), hypercalcemia may complicate neonatal Sucrase-Isomaltase deficiency. Hypercalcemia in the presence of chronic diarrhea should suggest disaccharide intolerance in young infants.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.