Overview
Hyper-beta-alaninemia is an extremely rare inherited metabolic disorder in which the body cannot properly break down beta-alanine, a naturally occurring amino acid. This leads to a buildup of beta-alanine and related compounds (such as beta-aminoisobutyric acid and gamma-aminobutyric acid, also known as GABA) in the blood and urine. The condition is caused by a deficiency of the enzyme beta-alanine-alpha-ketoglutarate aminotransferase, which is responsible for metabolizing beta-alanine. Symptoms typically appear in infancy or early childhood and primarily affect the nervous system. Children with this condition may experience seizures, excessive sleepiness or lethargy, and developmental delays. Because GABA is an important brain chemical involved in calming nerve activity, its abnormal accumulation may contribute to the neurological problems seen in this disorder. Hyper-beta-alaninemia is so rare that only a handful of cases have been described in the medical literature. There is currently no cure for this condition. Treatment is supportive and focuses on managing seizures and supporting development through therapies. Because so few patients have been identified, the full range of symptoms and long-term outcomes are not well understood. Early diagnosis and management by a team of metabolic and neurological specialists is important to optimize quality of life.
Also known as:
Key symptoms:
SeizuresExcessive sleepiness or lethargyDevelopmental delayLow muscle tone (floppiness)Difficulty feeding in infancyIntellectual disabilityElevated beta-alanine levels in blood and urineBreathing difficulties in severe cases
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Hyper-beta-alaninemia.
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Specialists
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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 Hyper-beta-alaninemia.
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Caregiver Resources
NORD Caregiver Resources
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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 specific tests confirmed the diagnosis, and should any family members be tested?,What seizure medications are recommended, and what side effects should I watch for?,Are there any dietary changes that could help manage my child's condition?,What developmental therapies should we start, and how often?,How will you monitor my child's amino acid levels over time?,Are there any research studies or clinical trials we should know about?,What emergency plan should we have in place for seizures?
Common questions about Hyper-beta-alaninemia
What is Hyper-beta-alaninemia?
Hyper-beta-alaninemia is an extremely rare inherited metabolic disorder in which the body cannot properly break down beta-alanine, a naturally occurring amino acid. This leads to a buildup of beta-alanine and related compounds (such as beta-aminoisobutyric acid and gamma-aminobutyric acid, also known as GABA) in the blood and urine. The condition is caused by a deficiency of the enzyme beta-alanine-alpha-ketoglutarate aminotransferase, which is responsible for metabolizing beta-alanine. Symptoms typically appear in infancy or early childhood and primarily affect the nervous system. Children w
How is Hyper-beta-alaninemia inherited?
Hyper-beta-alaninemia follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Hyper-beta-alaninemia typically begin?
Typical onset of Hyper-beta-alaninemia is infantile. Age of onset can vary across affected individuals.