Overview
GRACILE syndrome is a very rare and severe inherited metabolic disorder. The name stands for Growth Restriction, Aminoaciduria, Cholestasis, Iron overload, Lactic acidosis, and Early death — which describes the main features of the condition. It is also sometimes called Fellman syndrome or Finnish lethal neonatal metabolic syndrome, because it was first described in Finland and is most common there. This condition affects how the body's cells produce energy. A faulty gene causes problems in the mitochondria — the tiny power plants inside every cell. When the mitochondria do not work properly, the body builds up harmful substances like lactic acid and iron, and the liver cannot process bile normally. Babies with GRACILE syndrome are born very small and quickly develop serious problems with the liver, kidneys, and blood chemistry. Sadly, there is currently no cure for GRACILE syndrome. Treatment focuses on managing symptoms and keeping the baby as comfortable as possible. Despite the best medical care, most affected babies do not survive beyond the first few months of life. Families dealing with this diagnosis need strong medical support and access to specialists in metabolic diseases and newborn intensive care.
Also known as:
Key symptoms:
Very low birth weight and poor growth before birthBuildup of lactic acid in the blood (lactic acidosis), causing rapid breathing and irritabilityLiver disease with blocked bile flow (cholestasis), causing yellowing of the skin and eyesToo much iron stored in the liver and other organsAmino acids leaking into the urine (aminoaciduria), a sign of kidney problemsLow blood sugar (hypoglycemia)Swelling due to fluid buildup (edema)Muscle weakness and poor muscle toneDifficulty feedingAbnormal liver function blood testsEnlarged liverKidney tubule dysfunction
Clinical phenotype terms (11)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for GRACILE syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for GRACILE syndrome at this time.
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to GRACILE syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What does my baby's specific BCS1L mutation mean for their prognosis?,What symptoms should prompt us to call for emergency help immediately?,What supportive treatments are available to keep our baby comfortable?,Should we consider palliative care, and what does that involve?,What is the risk that a future pregnancy will be affected, and can we test for this before or during pregnancy?,Are there any research studies or registries we should know about?,What support services are available for our family during this time?
Common questions about GRACILE syndrome
What is GRACILE syndrome?
GRACILE syndrome is a very rare and severe inherited metabolic disorder. The name stands for Growth Restriction, Aminoaciduria, Cholestasis, Iron overload, Lactic acidosis, and Early death — which describes the main features of the condition. It is also sometimes called Fellman syndrome or Finnish lethal neonatal metabolic syndrome, because it was first described in Finland and is most common there. This condition affects how the body's cells produce energy. A faulty gene causes problems in the mitochondria — the tiny power plants inside every cell. When the mitochondria do not work properly,
How is GRACILE syndrome inherited?
GRACILE syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does GRACILE syndrome typically begin?
Typical onset of GRACILE syndrome is neonatal. Age of onset can vary across affected individuals.
Which specialists treat GRACILE syndrome?
10 specialists and care centers treating GRACILE syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.