Living with Congenital lactase deficiency
A rare condition in newborns in which the body cannot digest lactose, causing watery diarrhea after breast milk or regular formula.
Understanding Congenital lactase deficiency
Babies have watery diarrhea when fed breast milk or formula that contains lactose.
Signs & symptoms
GARD doesn't list a separate symptom list for this condition. The summary describes:
- Watery diarrhea after breast milk or lactose formula
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include digestive system specialists and genetic specialists.
- 3Consider genetic testing
Changes in LCT are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Digestive system specialists (gastroenterologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the LCT gene are listed. It is autosomal recessive, so a child inherits a changed copy from each parent.
Also known as: alactasia, congenital; cld - congenital lactase deficiency; congenital alactasia; congenital alactasia syndrome; congenital lactose intolerance; congenital lactose malabsorption
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Congenital lactase deficiency.
Explore research for Congenital lactase deficiency
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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