Living with Hyper-beta-alaninemia
A very rare metabolic condition in newborns in which beta amino acids build up and affect the brain.
Understanding Hyper-beta-alaninemia
The extra beta amino acids are harmful to the nervous system. Signs include convulsions (rapid, uncontrollable shaking), lethargy, and brain illness (encephalopathy). It is thought to be due to loss of a working form of the enzyme beta-alanine-alpha-ketoglutarate transaminase. It is seen in newborns.
Signs & symptoms
GARD doesn't list specific symptoms for this condition. Its summary describes:
- Convulsions
- Lethargy
- Brain illness (encephalopathy)
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 brain and nervous system specialists, genetic specialists and seizure and epilepsy specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: Epilepsy Foundation
- 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 Epilepsy Foundation
- 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 genes (also called variants) cause this condition. It is thought to be due to loss of a working form of the enzyme beta-alanine-alpha-ketoglutarate transaminase.
Also known as: hyperalaninemia; increased blood alanine; increased serum alanine
Patient organizations
- Epilepsy FoundationEpilepsy · United States
Broader rare-disease groups
- 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 Hyper-beta-alaninemia.
Explore research for Hyper-beta-alaninemia
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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