Overview
Beta-ureidopropionase deficiency (also called UPB1 deficiency or 3-ureidopropionase deficiency) is a very rare inherited metabolic disorder. It affects the body's ability to break down certain building blocks of DNA called pyrimidines — specifically uracil and thymine. When the enzyme beta-ureidopropionase does not work properly, harmful substances called beta-ureidopropionate and beta-ureidoisobutyrate build up in the blood, urine, and body tissues. This condition mainly affects the nervous system. Symptoms can vary widely from person to person. Some individuals have significant neurological problems, while others may have very mild or even no noticeable symptoms. Common features include intellectual disability, seizures, delayed development, and movement problems. Because symptoms can be so variable, some people are only diagnosed after a family member is found to have the condition. There is currently no specific cure for beta-ureidopropionase deficiency. Treatment focuses on managing symptoms, such as using anti-seizure medications for epilepsy and supportive therapies like physical, occupational, and speech therapy. Early diagnosis and supportive care can help improve quality of life. Research into this condition is ongoing, but it remains very rare and not fully understood.
Also known as:
Key symptoms:
Intellectual disability or learning difficultiesSeizures or epilepsyDelayed development in speech, walking, or other milestonesMuscle weakness or low muscle toneMovement problems or poor coordinationBehavioral difficultiesAutism-like featuresAbnormal levels of certain chemicals in urine (detected on metabolic testing)Microcephaly (smaller than normal head size) in some casesFeeding difficulties in infancy
Clinical phenotype terms (16)— hover any for plain English
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
Treatments
No FDA-approved treatments are currently listed for Beta-ureidopropionase deficiency.
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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 Beta-ureidopropionase deficiency.
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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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.What does my (or my child's) specific UPB1 gene change mean for the severity of the disease?,Should other family members be tested for this condition?,What seizure medications are most appropriate, and what are the side effects?,What therapies (speech, physical, occupational) should we start, and how soon?,Are there any clinical trials or research studies we could participate in?,How often should we have follow-up appointments and what monitoring tests are needed?,Are there any patient registries or support groups for this condition we can join?
Common questions about Beta-ureidopropionase deficiency
What is Beta-ureidopropionase deficiency?
Beta-ureidopropionase deficiency (also called UPB1 deficiency or 3-ureidopropionase deficiency) is a very rare inherited metabolic disorder. It affects the body's ability to break down certain building blocks of DNA called pyrimidines — specifically uracil and thymine. When the enzyme beta-ureidopropionase does not work properly, harmful substances called beta-ureidopropionate and beta-ureidoisobutyrate build up in the blood, urine, and body tissues. This condition mainly affects the nervous system. Symptoms can vary widely from person to person. Some individuals have significant neurological
How is Beta-ureidopropionase deficiency inherited?
Beta-ureidopropionase deficiency follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
Which specialists treat Beta-ureidopropionase deficiency?
1 specialists and care centers treating Beta-ureidopropionase deficiency are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.