Living with Succinate-semialdehyde dehydrogenase deficiency
An inherited condition affecting the nervous system, with delayed speech, low muscle tone, and sometimes seizures.
Understanding Succinate-semialdehyde dehydrogenase deficiency
People typically have developmental delays, especially in speech, intellectual disability, and low muscle tone soon after birth. Communication may improve over time. About half have seizures, coordination problems, or behavior problems such as sleep trouble, hyperactivity, and anxiety. Aggression and obsessive-compulsive disorder tend to develop in the teen and young adult years.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delayed development, especially speech
- Intellectual disability
- Low muscle tone
- Seizures
- Coordination problems (ataxia)
- Behavior problems
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.
- 3Consider genetic testing
Changes in ALDH5A1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 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 SSADH Association and other patient organizations
- 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 ALDH5A1 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: 4-hydroxybutyric aciduria; gaba metabolic defect; gabauria; gamma-hydroxybutyric acidemia; gamma-hydroxybutyric aciduria; ssadh
Patient organizations
- SSADH AssociationSuccinate-semialdehyde dehydrogenase deficiency · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Succinate-semialdehyde dehydrogenase deficiency.
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