Living with Enterokinase deficiency
A rare genetic digestive condition in which the body has trouble absorbing food from early infancy.
Understanding Enterokinase deficiency
GARD describes poor growth and weight gain, swelling (edema), low protein levels in the blood, diarrhea, and trouble absorbing fat. It is seen in newborns and infants. Celiac disease or other pancreas or gut disorders may also be present.
Signs & symptoms
GARD describes these features in its summary:
- Poor growth and weight gain (failure to thrive)
- Swelling (edema)
- Low protein in the blood
- Diarrhea
- Trouble absorbing fat
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 TMPRSS15 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 TMPRSS15 gene cause this condition. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: congenital enterokinase deficiency; congenital enteropathy due to enteropeptidase deficiency; deficiency of enterokinase; deficiency of enteropeptidase; enteropeptidase deficiency; intestinal enterokinase deficiency
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 Enterokinase deficiency.
Explore research for Enterokinase deficiency
Explore actively recruiting Enterokinase deficiency studies with HealthSpark.
Find actively recruiting studies for Enterokinase deficiency with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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