Overview
Disorders of peptide metabolism are a broad group of rare inherited conditions where the body cannot properly break down or process certain small protein fragments called peptides. Peptides are short chains of amino acids — the building blocks of proteins — and when the enzymes responsible for handling them do not work correctly, these fragments can build up to harmful levels or important nutrients may not be absorbed properly. This group includes conditions such as prolidase deficiency, carnosinemia (also called carnosinase deficiency), homocarnosinosis, and serum carnosinase deficiency, among others. Each specific disorder affects different peptides and different parts of the body. Symptoms vary widely depending on the exact disorder but can include intellectual disability, skin problems, recurrent infections, and problems with the nervous system. Some forms mainly affect the skin and joints, while others primarily impact brain development and function. Because these are rare conditions, they are often diagnosed late, after years of unexplained symptoms. Treatment is mostly focused on managing symptoms rather than curing the underlying cause. Dietary changes, vitamin supplements, and wound care may help in some forms. Research into more targeted therapies is ongoing, but options remain limited for most people with these conditions.
Key symptoms:
Intellectual disability or learning difficultiesSkin ulcers or sores that are slow to heal, especially on the legsRecurrent skin infectionsJoint pain or swellingFacial features that look different from other family membersSeizuresMuscle weakness or poor muscle toneDelayed speech or language developmentBehavioral problems or mood changesFragile or easily damaged skinEnlarged spleen or liver in some formsPoor growth or failure to thrive in infancy
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Variable
Can begin at different ages, from infancy through adulthood
FDA & Trial Timeline
10 eventsSocietà Italiana di Endocrinologia e Diabetologia Pediatrica
Second Xiangya Hospital of Central South University — NA
Kailera — PHASE2
Kailera — PHASE3
Kailera — PHASE3
Kailera — PHASE3
FFoQSI - Austrian Competence Centre for Feed and Food Quality, Safety & Innovation — NA
Mayo Clinic — PHASE4
Nuritas Ltd — NA
Assiut University
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Disorder of peptide metabolism.
1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Disorder of peptide metabolism.
Community
No community posts yet. Be the first to share your experience with Disorder of peptide metabolism.
Start the conversation →Latest news about Disorder of peptide metabolism
Disease timeline:
New recruiting trial: A Study in People With Obesity to Test the Effects of BI 456906 Compared With Semaglutide on Glucagon Receptor Activity in the Liver
A new clinical trial is recruiting patients for Disorder of peptide metabolism
New recruiting trial: Study on the Predictive Value of High-sensitivity Cardiac Troponin I, N-terminal Pro-B-natriuretic Peptide, and Soluble Suppression of Tumorigenesis-2 for Mortality and the Development of Cardiovascular Events in Patients With Type 2 Diabetes (Diabetes-CV)
A new clinical trial is recruiting patients for Disorder of peptide metabolism
New recruiting trial: Effect of C-peptide on Hypoglycemic Counterregulation
A new clinical trial is recruiting patients for Disorder of peptide metabolism
New recruiting trial: Study to Evaluate the Safety and Feasibility of Diamyd® in Individuals at Risk for Type 1 Diabetes
A new clinical trial is recruiting patients for Disorder of peptide metabolism
New recruiting trial: Comparison of Body Composition Changes With Weight Loss Interventions
A new clinical trial is recruiting patients for Disorder of peptide metabolism
New recruiting trial: Glucagon-like Peptide 1 (GLP-1) Receptor Agonist Therapy and Exercise Training in People With Obesity
A new clinical trial is recruiting patients for Disorder of peptide metabolism
New recruiting trial: GENESIS: Genotype Guided - Natriuretic Peptides - Cardiometabolic Health Study
A new clinical trial is recruiting patients for Disorder of peptide metabolism
New recruiting trial: The Effects of MediDrink Platinum+ and Fava Bean Protein Hydrolysate on Fitness in an Aged Population
A new clinical trial is recruiting patients for Disorder of peptide metabolism
New recruiting trial: NAUTICAL: Effect of Natriuretic Peptide Augmentation on Cardiometabolic Health in Black Individuals
A new clinical trial is recruiting patients for Disorder of peptide metabolism
New recruiting trial: Efficacy and Safety of KAI-9531 in Participants Living With Obesity or Overweight With Weight-Related Comorbidities Who Do Not Have Diabetes
A new clinical trial is recruiting patients for Disorder of peptide metabolism
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.Which specific disorder of peptide metabolism does my child or I have, and what gene is involved?,What tests are needed to monitor the condition over time?,Are there any dietary changes or supplements that could help manage symptoms?,What is the best approach for managing skin ulcers or wounds?,Should other family members be tested for this condition?,Are there any clinical trials or new treatments being studied that we should know about?,What signs or symptoms should prompt an emergency visit or urgent call to the medical team?
Common questions about Disorder of peptide metabolism
What is Disorder of peptide metabolism?
Disorders of peptide metabolism are a broad group of rare inherited conditions where the body cannot properly break down or process certain small protein fragments called peptides. Peptides are short chains of amino acids — the building blocks of proteins — and when the enzymes responsible for handling them do not work correctly, these fragments can build up to harmful levels or important nutrients may not be absorbed properly. This group includes conditions such as prolidase deficiency, carnosinemia (also called carnosinase deficiency), homocarnosinosis, and serum carnosinase deficiency, amon
How is Disorder of peptide metabolism inherited?
Disorder of peptide metabolism follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
Are there clinical trials for Disorder of peptide metabolism?
Yes — 1 recruiting clinical trial is currently listed for Disorder of peptide metabolism on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Disorder of peptide metabolism?
25 specialists and care centers treating Disorder of peptide metabolism are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.