Living with Acyl-CoA oxidase deficiency
A condition that causes the nervous system to slowly lose function, starting in infancy, with weak muscle tone and seizures.
Understanding Acyl-CoA oxidase deficiency
Newborns have weak muscle tone (hypotonia) and seizures. Some have unusual facial features, extra fingers or toes, or an enlarged liver. Most babies learn to walk and begin to speak, but then slowly lose these skills, usually between ages 1 and 3. Later, children can develop stiff muscles, more severe seizures, and loss of vision and hearing.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weak muscle tone in newborns (hypotonia)
- Seizures
- Delayed development
- Loss of skills gained earlier (developmental regression)
- Enlarged liver (hepatomegaly)
- Poor weight gain (failure to thrive)
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 ACOX1 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 Global Foundation for Peroxisomal Disorders 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 ACOX1 gene cause this condition. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: acox1 deficiency; acyl-coenzyme a oxidase deficiency; peroxisomal acyl-coa oxidase deficiency; peroxisomal acyl-coenzyme a oxidase; pseudo-nald; pseudo-neonatal adrenoleucodystrophy
Patient organizations
- Global Foundation for Peroxisomal DisordersAcyl-CoA oxidase deficiency · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Acyl-CoA oxidase deficiency.
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