Overview
Disorder of beta and omega amino acid metabolism is a group of rare inherited metabolic conditions that affect how the body breaks down certain types of amino acids. Amino acids are the building blocks of proteins, and the body normally processes them through specific chemical pathways. In these disorders, the enzymes responsible for breaking down beta amino acids (such as beta-alanine) and omega amino acids are missing or not working properly. This leads to a buildup of these substances or their byproducts in the blood and urine, which can be harmful to the body over time. Symptoms can vary widely depending on the specific enzyme affected, but may include developmental delays, seizures, muscle weakness, and problems with growth. Some individuals may have neurological symptoms such as intellectual disability or movement difficulties. The severity ranges from mild to severe. Treatment is generally supportive and focused on managing symptoms. Dietary modifications may help reduce the buildup of harmful substances. Some patients benefit from vitamin supplements or cofactor therapy. Because these are very rare conditions, there is limited research on specific treatments, and management is often individualized based on each patient's symptoms and biochemical findings. Early diagnosis through newborn screening or metabolic testing can help guide treatment and improve outcomes.
Key symptoms:
Developmental delaySeizuresMuscle weaknessIntellectual disabilityPoor growth or failure to thriveMovement problems or poor coordinationUnusual levels of amino acids in urineFatigue or low energyFeeding difficulties in infancyBehavioral changesSpeech delaysLow muscle tone (floppiness)
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 Disorder of beta and omega amino acid metabolism.
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Specialists
View all specialists →No specialists are currently listed for Disorder of beta and omega amino acid metabolism.
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 Disorder of beta and omega amino acid metabolism.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
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 specific type of beta or omega amino acid disorder does my child have?,Are there dietary changes that could help manage this condition?,What signs of a metabolic crisis should I watch for, and what should I do if one occurs?,How often should we have follow-up metabolic testing?,Are there any clinical trials or new treatments being studied for this condition?,What therapies (physical, occupational, speech) would benefit my child?,Should other family members be tested for this condition?
Common questions about Disorder of beta and omega amino acid metabolism
What is Disorder of beta and omega amino acid metabolism?
Disorder of beta and omega amino acid metabolism is a group of rare inherited metabolic conditions that affect how the body breaks down certain types of amino acids. Amino acids are the building blocks of proteins, and the body normally processes them through specific chemical pathways. In these disorders, the enzymes responsible for breaking down beta amino acids (such as beta-alanine) and omega amino acids are missing or not working properly. This leads to a buildup of these substances or their byproducts in the blood and urine, which can be harmful to the body over time. Symptoms can vary
How is Disorder of beta and omega amino acid metabolism inherited?
Disorder of beta and omega amino acid metabolism follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.