Living with Peroxisomal single enzyme/protein defect
A group of peroxisomal conditions caused by a problem with a single enzyme or protein.
Understanding Peroxisomal single enzyme/protein defect
Peroxisomes are small parts inside cells that help break down certain substances. In this group of conditions, one enzyme or protein in the peroxisome doesn't work. GARD doesn't have more detail on this group yet.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet.
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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 Global Foundation for Peroxisomal Disorders
- 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
GARD says the cause is a defect in a single enzyme or protein of the peroxisome.
Patient organizations
- Global Foundation for Peroxisomal DisordersPeroxisomal single enzyme/protein defect · United States
You are more than your diagnosis
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