Living with Bile acid CoA ligase deficiency and defective amidation
A rare genetic condition affecting bile acid production, causing poor fat absorption and slow growth in babies.
Understanding Bile acid CoA ligase deficiency and defective amidation
It is seen in newborns and infants. Features include poor fat absorption, bile flow trouble in newborns (cholestasis), and slow growth.
Signs & symptoms
GARD describes these main features:
- Poor fat absorption (fat malabsorption)
- Poor bile flow in newborns (neonatal cholestasis)
- Slow growth
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 digestive system specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Digestive system specialists (gastroenterologists); 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 genes cause this condition. GARD doesn't name a specific gene yet.
Also known as: bile acid coenzyme a ligase deficiency and defective amidation
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 Bile acid CoA ligase deficiency and defective amidation.
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