Living with Congenital bile acid synthesis defect 4
A rare inherited condition of bile acid making with mild liver disease, fat malabsorption and nerve problems, starting at any age.
Understanding Congenital bile acid synthesis defect 4
The liver disease is mild. Some people have fat malabsorption or nervous system problems, and symptoms can start at any time in life.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Brain involvement (encephalopathy)
- Nerve damage affecting feeling and movement
- Retina changes (pigmentary retinopathy)
- Seizures
- Learning disability
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, digestive system specialists and genetic specialists.
- 3Consider genetic testing
Changes in AMACR 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
The Foundation for Peripheral Neuropathy may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Digestive system specialists (gastroenterologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: The Foundation for Peripheral Neuropathy
- 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 The Foundation for Peripheral Neuropathy 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 AMACR gene are listed. It is autosomal recessive, so a child inherits a changed copy from each parent.
Also known as: 2-methylacyl-coa racemase deficiency; alpha-methyl-acyl-coa racemase deficiency; bas defect type 4; basd4; bile acid synthesis defect, congenital, type 4; cbas4
Patient organizations
- The Foundation for Peripheral NeuropathyPeripheral neuropathy · United States
- Neuropathy Action FoundationPeripheral neuropathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Congenital bile acid synthesis defect 4.
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