Living with Congenital malabsorptive diarrhea 4
A very rare genetic condition causing severe diarrhea and poor food absorption from the first weeks of life.
Understanding Congenital malabsorptive diarrhea 4
It happens because the intestine lacks certain cells (enteroendocrine cells). Babies can develop dehydration, metabolic acidosis (too much acid in the blood), and diabetes within the first weeks of life or later in childhood. The diarrhea needs nutrition given through a vein (parenteral nutrition) and stops when not eating. Some people have pancreas problems, and low hormone levels from the sex glands (central hypogonadism) or celiac disease have been reported.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Diarrhea
- Trouble absorbing nutrients (malabsorption)
- Dehydration
- Vomiting
- Type 1 diabetes
- Liver disease with slowed bile flow (cholestasis)
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 NEUROG3 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
It is caused by changes in the NEUROG3 gene. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: congenital diarrhea caused by mutation in neurog3; congenital diarrhoea caused by mutation in neurog3; congenital malabsorptive diarrhea due to paucity of enteroendocrine cells; congenital malabsorptive diarrhea type 4; congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells; congenital malabsorptive diarrhoea type 4
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
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Perspectives from people navigating life with Congenital malabsorptive diarrhea 4.
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