Building Your Care Team and Preparing for Visits
At a Glance
Children with congenital enteropeptidase deficiency benefit from a coordinated team led by a pediatric gastroenterologist, with genetics, nutrition, pharmacy, and primary care support. Bring growth, genetic, lab, and symptom records to visits.
Because congenital enteropeptidase deficiency is so rare, you are essentially building a custom medical “home” for your child. Most doctors will never have seen a case in person, so the most important quality in your care team is their willingness to research the literature and collaborate with specialists rather than having prior firsthand experience with this specific disease [1][2].
Your Multidisciplinary Roster
Managing this condition requires a team that looks at your child’s health from different angles—digestion, nutrition, genetics, and medication safety.
- Pediatric Gastroenterologist (GI): This specialist is the “lead” for your child’s care. They oversee the diagnosis, prescribe the pancreatic enzymes (PERT), and monitor how well your child’s digestive system is responding [3][1].
- Medical Geneticist: The geneticist confirms the TMPRSS15 gene variants, helps interpret the pathology report, and provides counseling. They can explain whether sibling testing or carrier testing is useful for future family planning [4][1].
- Clinical Dietitian/Nutritionist: A pediatric dietitian is a vital partner. They help determine individualized, age-appropriate protein and energy goals to help your child “catch up” on growth, and manage specific formula recommendations [2][1].
- Clinical Pharmacist: Because infant PERT administration is complex, a pharmacist will guide you on how to handle the capsules, avoid damaging the medication, and properly administer it with feeds.
What to Bring to Your First Specialist Visit
When dealing with a rare condition, accurate data is crucial. Having physical copies of records allows the specialist to see the full picture of your child’s journey.
- Growth Charts: Bring the full history of your child’s weight, length, and head circumference measurements. The growth pattern is one of the most important indicators of clinical success [5][1].
- Genetic Testing Results: Bring the actual lab report showing the TMPRSS15 variants and their specific classifications (e.g., pathogenic) [4].
- Laboratory Records: Bring records of blood tests. A Comprehensive Metabolic Panel (CMP) will show levels of albumin and total protein, while a Complete Blood Count (CBC) will show hemoglobin levels (indicating anemia) [1][3].
- Symptom & Feeding Log: A detailed diary of what your child is eating, how often they are vomiting or having diarrhea, and any visible symptoms like swelling (edema) or rashes [2][1].
Vetting Your Specialists
Since there are very few cases of this condition reported worldwide, it is unlikely your specialist has treated it before [1]. Instead of asking “how many cases have you seen,” focus on their commitment to collaborative care:
- “Are you open to consulting with a national rare-disease center or a pediatric GI network about our child’s case?”
- “Can we set up a regular schedule for blood work to safely monitor my child’s nutritional status?”
- “How will our dietitian and pharmacist work with you to adjust my child’s formula and enzyme doses safely?”
By gathering a team that is curious, collaborative, and data-driven, you ensure your child has the expert support they need.
Common questions in this guide
What specialists should care for a child with congenital enteropeptidase deficiency?
What records should I take to my child's first specialist visit?
How can a pediatric dietitian help with this condition?
How should pancreatic enzymes be handled for an infant?
What if my child's specialist has never treated enteropeptidase deficiency?
What should we track between appointments?
Get notified when new evidence is published on Congenital enteropathy due to enteropeptidase deficiency.
We monitor PubMed for new peer-reviewed studies on this topic and email a short summary when something meaningful changes.
References
References (5)
- 1
Enterokinase deficiency associated with novel TMPRSS15 gene mutations: a case report.
Li Y, Li R, Pan Y, et al.
Frontiers in pediatrics 2025; (13()):1484208 doi:10.3389/fped.2025.1484208.
PMID: 39944319 - 2
Enterokinase deficiency with novel TMPRSS15 gene mutation masquerading as acrodermatitis enteropathica.
Chen Y, Li Z, Liu C, Wang S
Pediatric dermatology 2023; (40(2)):389-391 doi:10.1111/pde.15197.
PMID: 36410965 - 3
Activation of Human Pancreatic Proteolytic Enzymes: The Role of Enteropeptidase and Trypsin.
Freiburghaus AU, Roduner J, Hadorn HB
JPGN reports 2021; (2(4)):e138 doi:10.1097/PG9.0000000000000138.
PMID: 37206452 - 4
Novel Compound Heterozygous TMPRSS15 Gene Variants Cause Enterokinase Deficiency.
Wang L, Zhang D, Fan C, et al.
Frontiers in genetics 2020; (11()):538778 doi:10.3389/fgene.2020.538778.
PMID: 33061943 - 5
Growth in Infants and Children With Intestinal Failure-associated Liver Disease Treated With Intravenous Fish Oil.
Raphael BP, Mitchell PD, Gura KM, et al.
Journal of pediatric gastroenterology and nutrition 2020; (70(2)):261-268 doi:10.1097/MPG.0000000000002551.
PMID: 31978030
This page is for educational purposes and does not replace medical advice. Your child's pediatric gastroenterologist and care team should guide genetic testing, feeding plans, enzyme use, monitoring, and urgent decisions.