Living with GRACILE syndrome
A severe inherited condition that begins before birth, affecting growth, the liver, the kidneys, and how the body handles iron and lactic acid.
Understanding GRACILE syndrome
The name stands for growth retardation, aminoaciduria (extra amino acids in the urine), cholestasis (reduced bile flow), iron overload, and lactic acidosis. Babies grow slowly before birth, are smaller than average, and don't gain weight as expected. Excess iron in the liver likely begins before birth. Lactic acid builds up within the first day of life. Cholestasis leads to irreversible liver scarring (cirrhosis) in the first months.
Signs & symptoms
Symptoms vary. GARD lists these among the most common:
- Slow growth before birth
- Liver scarring (cirrhosis)
- Reduced bile flow (cholestasis)
- Hearing impairment
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
Changes in the BCS1L gene cause this condition. GARD lists both autosomal recessive and mitochondrial inheritance.
Also known as: fellman disease; fellman syndrome; finnish lactic acidosis with hepatic hemosiderosis; finnish lethal neonatal metabolic syndrome; flnms; growth delay-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death 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 GRACILE syndrome.
Explore research for GRACILE syndrome
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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