Living with Dihydropyrimidinase deficiency
An inherited condition that can cause brain and digestive problems in some people, while others have no symptoms.
Understanding Dihydropyrimidinase deficiency
Other people have no symptoms and are found only by lab testing. Common neurological problems are intellectual disability, seizures, and low muscle tone. Some people have a small head or autistic behaviors. Digestive problems include acid reflux and repeated vomiting. GARD lists onset in infancy and childhood.
Signs & symptoms
Symptoms vary, and some people have none. GARD lists these as the most common:
- Intellectual disability
- Seizures
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 genetic specialists.
- 3Consider genetic testing
Changes in DPYS 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
- 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 DPYS gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: dihydropyrimidinuria; dihydrouracil amidohydrolase deficiency; dph deficiency; dpys deficiency; dpysd
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 Dihydropyrimidinase deficiency.
Explore research for Dihydropyrimidinase deficiency
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