Living with Dihydropyrimidine dehydrogenase deficiency
An inherited condition with a wide range, from severe neurological problems in infancy to no symptoms, and sensitivity to certain cancer drugs.
Understanding Dihydropyrimidine dehydrogenase deficiency
In severe cases it shows up in infancy with seizures, intellectual disability, a small head, increased muscle tone, delayed motor skills, and autistic behaviors. Others have no symptoms and are found only by lab testing. People with the condition, even without symptoms, are at risk of serious toxic reactions to cancer drugs called fluoropyrimidines.
Signs & symptoms
Symptoms vary, and some people have none. GARD lists these among the most common:
- Seizures
- Delayed development overall
- Low muscle tone in infancy (floppy infant)
- Specific learning disability
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 DPYD 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 DPYD gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: dihydrothymine dehydrogenase deficiency; dihydrouracil dehydrogenase (nadp) deficiency; dihydrouracil dehydrogenase (nadp^+^) deficiency; dihydrouracil dehydrogenase (nicotinamide adenine dinucleotide phosphate ^+^) deficiency; dihydrouracil dehydrogenase deficiency; dpd - dihydropyrimidine dehydrogenase deficiency
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 Dihydropyrimidine dehydrogenase deficiency.
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