Congenital lactase deficiency

Common Name(s)

Congenital lactase deficiency

Congenital lactase deficiency is a severe gastrointestinal disorder characterized by watery diarrhea in infants fed with breast milk or other lactose-containing formulas.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Congenital lactase deficiency" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Congenital lactase deficiency" returned 5 free, full-text research articles on human participants. First 3 results:

Two novel mutations in the lactase gene in a Japanese infant with congenital lactase deficiency.
 

Author(s): Nao Uchida, Osamu Sakamoto, Masahiro Irie, Daiki Abukawa, Junji Takeyama, Shigeo Kure, Shigeru Tsuchiya

Journal: Tohoku J. Exp. Med.. 2012 ;227(1):69-72.

 

Intestinal lactase is required for the hydrolysis of lactose that is the most essential carbohydrate in milk and the primary diet source of newborn. Congenital lactase deficiency [CLD (MIM 223000)] is a severe gastrointestinal disorder and is characterized by watery diarrhea due to ...

Last Updated: 12 Jun 2012

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Four novel mutations in the lactase gene (LCT) underlying congenital lactase deficiency (CLD).
 

Author(s): Suvi Torniainen, Roberta Freddara, Taina Routi, Carolien Gijsbers, Carlo Catassi, Pia Höglund, Erkki Savilahti, Irma Järvelä

Journal:

 

Congenital lactase deficiency (CLD) is a severe gastrointestinal disorder of newborns. The diagnosis is challenging and based on clinical symptoms and low lactase activity in intestinal biopsy specimens. The disease is enriched in Finland but is also present in other parts of the ...

Last Updated: 4 Feb 2009

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Mutations in the translated region of the lactase gene (LCT) underlie congenital lactase deficiency.
 

Author(s): Mikko Kuokkanen, Jorma Kokkonen, Nabil Sabri Enattah, Tero Ylisaukko-Oja, Hanna Komu, Teppo Varilo, Leena Peltonen, Erkki Savilahti, Irma Jarvela

Journal: Am. J. Hum. Genet.. 2006 Feb;78(2):339-44.

 

Congenital lactase deficiency (CLD) is a severe gastrointestinal disorder characterized by watery diarrhea in infants fed with breast milk or other lactose-containing formulas. We initially assigned the CLD locus by linkage and linkage disequilibrium on 2q21 in 19 Finnish families. ...

Last Updated: 9 Jan 2006

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Congenital lactase deficiency" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.