Living with Deficiency of acetyl-CoA acetyltransferase
An inherited condition where the body cannot process the amino acid isoleucine or ketones, causing sudden episodes of illness in young children.
Understanding Deficiency of acetyl-CoA acetyltransferase
Ketones are molecules made when fats are broken down. Symptoms usually appear between 6 months and 24 months of age. Children have episodes called ketoacidotic attacks, which can sometimes lead to coma. Infections, fasting, and eating more protein can trigger these episodes.
Signs & symptoms
Symptoms vary from person to person. GARD's summary lists these during episodes:
- Vomiting
- Dehydration
- Difficulty breathing
- Extreme tiredness (lethargy)
- Seizures (occasionally)
- Diarrhea
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 and genetic specialists.
- 3Consider genetic testing
Changes in ACAT1 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
MitoAction may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: MitoAction
- 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 MitoAction 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 ACAT1 gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: 2-methyl-3-hydroxybutyricacidemia; 3-ketothiolase deficiency; 3-methylhydroxybutyric acidemia; 3-oxothiolase deficiency; acetoacetyl-coa thiolase deficiency; alpha methylacetoacetic aciduria
Patient organizations
- MitoActionDeficiency of acetyl-CoA acetyltransferase · United States
- Organic Acidemia AssociationDeficiency of acetyl-CoA acetyltransferase · United States
You are more than your diagnosis
Perspectives from people navigating life with Deficiency of acetyl-CoA acetyltransferase.
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