ReviewNutrients2019
Congenital Lactase Deficiency: Mutations, Functional and Biochemical Implications, and Future Perspectives.
Review in Nutrients, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 48 citations in OpenAlex.
- European guideline on indications, performance, and clinical impact of hydrogen and methane breath tests in adult and pediatric patients: European Association for Gastroenterology, Endoscopy and Nutrition, European Society of Neurogastroenterology and Motility, and European Society for Paediatric Gastroenterology Hepatology and Nutrition consensus.United European gastroenterology journal · 2022Guideline
- Hydrogen and Methane Breath Test: The Asian Neurogastroenterology and Motility Association Monograph.Journal of neurogastroenterology and motility · 2026Review
- Non-Pancreatic Digestive Enzymes.Biomolecules · 2025Review
- Genetic analysis of congenital and adult-onset lactose intolerance points to anti-inflammatory effects of dairy products.BMJ nutrition, prevention & health · 2025Article
- One mechanism of Sishen Pill on diarrhea with kidney Yang deficiency syndrome: influencing metabolic function by intestinal microorganisms and enzyme activity mediates the gut-kidney axis.Frontiers in cellular and infection microbiology · 2025Article
- Synergistic treatment of sodium propionate and Sishen Pill for diarrhea mice with kidney-yang deficiency syndrome.Frontiers in cellular and infection microbiology · 2025Article
- Diet management in congenital diarrheas and enteropathies - general concepts and disease-specific approach, a narrative review.The American journal of clinical nutrition · 2024Review
- Diet and Management of Diarrhea.Indian journal of pediatrics · 2024Review
- Adenine's impact on mice's gut and kidney varies with the dosage administered and relates to intestinal microorganisms and enzyme activities.3 Biotech · 2024Article
- Review
- Cow's Milk: A Benefit for Human Health? Omics Tools and Precision Nutrition for Lactose Intolerance Management.Nutrients · 2024Review
- Food Intolerances, Food Allergies and IBS: Lights and Shadows.Nutrients · 2024Review
- The genetics of monogenic intestinal epithelial disorders.Human genetics · 2023Review
- Baohe pill decoction treats diarrhea induced by high-fat and high-protein diet by regulating lactase-producing bacteria in intestinal mucosa.Frontiers in microbiology · 2023Article
- Gene variants of the SLC2A5 gene encoding GLUT5, the major fructose transporter, do not contribute to clinical presentation of acquired fructose malabsorption.BMC gastroenterology · 2022Article
- Developmental exposure to phytoestrogens found in soy: New findings and clinical implications.Biochemical pharmacology · 2022Review
- Patients with functional bowel disorder have disaccharidase deficiency: A single-center study from Russia.World journal of clinical cases · 2021Article
- Lactose Intolerance: What Your Breath Can Tell You.Diagnostics (Basel, Switzerland) · 2020Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 2 countries.
Funding
Abstract
Congenital lactase deficiency (CLD) is a severe autosomal recessive genetic disorder that affects the functional capacity of the intestinal protein lactase-phlorizin hydrolase (LPH). This disorder is diagnosed already during the first few days of the newborn's life due to the inability to digest lactose, the main carbohydrate in mammalian milk. The symptoms are similar to those in other carbohydrate malabsorption disorders, such as congenital sucrase-isomaltase deficiency, and include severe osmotic watery diarrhea. CLD is associated with mutations in the translated region of the LPH gene that elicit loss-of-function of LPH. The mutations occur in a homozygote or compound heterozygote pattern of inheritance and comprise missense mutations as well as mutations that lead to complete or partial truncations of crucial domains in LPH, such as those linked to the folding and transport-competence of LPH and to the catalytic domains. Nevertheless, the identification of the mutations in CLD is not paralleled by detailed genotype/protein phenotype analyses that would help unravel potential pathomechanisms underlying this severe disease. Here, we review the current knowledge of CLD mutations and discuss their potential impact on the structural and biosynthetic features of LPH. We also address the question of whether heterozygote carriers can be symptomatic for CLD and whether genetic testing is needed in view of the severity of the disease.
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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.