Living with Renal tubulopathy-encephalopathy-liver failure syndrome
A condition with kidney, brain, and liver problems that is similar to but milder than GRACILE syndrome.
Understanding Renal tubulopathy-encephalopathy-liver failure syndrome
It can involve kidney tube problems, brain dysfunction (encephalopathy), and liver problems, and can be associated with psychiatric disorders. GARD lists onset in the newborn or infant period.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. The summary describes these features:
- Kidney tubule problems (renal tubulopathy)
- Brain dysfunction (encephalopathy)
- Liver problems
- Psychiatric disorders in some people
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.
- 3Consider genetic testing
Changes in BCS1L 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
United Mitochondrial Disease Foundation and MitoAction may keep lists of experts for this condition.
Care & treatment
- Care team
- Digestive system specialists (gastroenterologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: United Mitochondrial Disease Foundation, 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 United Mitochondrial Disease Foundation 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
This condition is caused by changes in the BCS1L gene. GARD lists autosomal recessive and mitochondrial inheritance.
Also known as: renal tubulopathy with encephalopathy and liver failure syndrome
Patient organizations
- United Mitochondrial Disease FoundationMitochondrial diseases · United States
- MitoActionMitochondrial diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Renal tubulopathy-encephalopathy-liver failure syndrome.
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