Living with Succinyl-CoA acetoacetate transferase deficiency
An inherited condition in which the body can't break down ketones, causing sudden episodes of tiredness, vomiting, and fast breathing.
Understanding Succinyl-CoA acetoacetate transferase deficiency
Ketones are made in the liver when fats are broken down. Signs usually appear in the first few years of life. People have episodes called ketoacidotic attacks, with extreme tiredness, poor appetite, vomiting, and fast breathing. Seizures can occur, and the episodes sometimes lead to coma. People have no symptoms between attacks but usually have high ketones in the blood all the time.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Vomiting
- Fast breathing
- Extreme tiredness (lethargy)
- Poor appetite
- Seizures (occasionally)
- Coma in some episodes
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 genetic specialists.
- 3Consider genetic testing
Changes in OXCT1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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 OXCT1 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent. Infections, fevers, or fasting can bring on an attack.
Also known as: 3-ketoacid coa transferase deficiency; 3-oxoacid coa transferase deficiency; ketoacidosis due to scot deficiency; oxct1 deficiency; scot deficiency; scotd
Patient organizations
Rare-disease groups that can help
- 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 Succinyl-CoA acetoacetate transferase deficiency.
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