Living with Prolidase deficiency
A rare genetic condition with a wide range of symptoms, including skin sores, infections, and an enlarged spleen.
Understanding Prolidase deficiency
People may have an enlarged spleen, sometimes with an enlarged liver. Diarrhea, vomiting, and dehydration can occur, along with skin or ear infections. Skin sores, especially on the hands, feet, lower legs, and face, can range from a mild rash to severe ulcers. Some people have delayed development or intellectual disability. Some people have no symptoms, and it is found by lab tests.
Signs & symptoms
Symptoms vary a lot from person to person. GARD lists these among the most common:
- Skin sores or crusting rash
- Enlarged spleen and sometimes liver
- Frequent infections of the skin or ears
- Widely spaced eyes and a flat nose bridge
- Delayed development or intellectual disability
- Hearing problems
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 brain and nervous system specialists, genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in PEPD 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
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- 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 Children's Skin Disease Foundation
- 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
This condition is caused by changes in the PEPD gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: deficiency of imidodipeptidase; deficiency of prolidase; deficiency of proline dipeptidase; deficiency of xaa-pro dipeptidase; hyperimidodipeptiduria; hyperimidodipeptiduria due to proline dipeptidase deficiency
Patient organizations
- Children's Skin Disease FoundationSkin diseases · United States
Broader rare-disease groups
- 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 Prolidase deficiency.
Explore research for Prolidase deficiency
Explore actively recruiting Prolidase deficiency studies with HealthSpark.
Find actively recruiting studies for Prolidase deficiency with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
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- 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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