Overview
Mitochondrial DNA depletion syndrome, hepatocerebrorenal form (also sometimes called BCS1L-related mitochondrial complex III deficiency or GRACILE-like syndrome depending on the genetic cause) is an extremely rare inherited metabolic disorder that affects the mitochondria — the tiny energy-producing structures inside nearly every cell in your body. In this particular form, the disease primarily damages three organ systems: the liver (hepato-), the brain (cerebro-), and the kidneys (renal). Because mitochondria are responsible for generating the energy cells need to function, organs that require a lot of energy are hit hardest. Babies with this condition typically become ill very early in life, often in the newborn period or within the first few months. Common problems include liver failure with jaundice and poor liver function, brain abnormalities leading to seizures and developmental delays, and kidney dysfunction. Affected infants may also have low muscle tone, poor feeding, failure to thrive, and lactic acidosis (a dangerous buildup of acid in the blood). The disease can progress rapidly. Unfortunately, there is currently no cure for this condition. Treatment is supportive and focuses on managing symptoms, such as controlling seizures, supporting nutrition, treating liver and kidney complications, and addressing metabolic crises. Research into mitochondrial disease therapies is ongoing, but options remain very limited. Early diagnosis through genetic testing is important for family planning and ensuring the best possible supportive care.
Also known as:
Key symptoms:
Liver failure or severe liver dysfunctionJaundice (yellowing of the skin and eyes)SeizuresDevelopmental delay or regressionKidney problems or kidney failureLow muscle tone (floppy baby)Poor feeding and failure to thriveLactic acidosis (buildup of acid in the blood)Low blood sugar (hypoglycemia)Enlarged liverVomiting and poor weight gainBreathing difficultiesLethargy or excessive sleepinessMovement abnormalities
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 Mitochondrial DNA depletion syndrome, hepatocerebrorenal form.
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Specialists
View all specialists →No specialists are currently listed for Mitochondrial DNA depletion syndrome, hepatocerebrorenal form.
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 Mitochondrial DNA depletion syndrome, hepatocerebrorenal form.
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 specific gene mutation is causing my child's condition, and what does that mean for the expected course of the disease?,Are there any clinical trials or experimental treatments that my child might be eligible for?,What signs of a metabolic crisis should I watch for, and what should I do if one occurs?,Is liver transplantation an option for my child, and what are the risks and benefits?,What supportive therapies can help improve my child's quality of life?,What does this diagnosis mean for future pregnancies, and should we pursue genetic counseling?,Can you connect us with a mitochondrial disease specialist or center of excellence?
Common questions about Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
What is Mitochondrial DNA depletion syndrome, hepatocerebrorenal form?
Mitochondrial DNA depletion syndrome, hepatocerebrorenal form (also sometimes called BCS1L-related mitochondrial complex III deficiency or GRACILE-like syndrome depending on the genetic cause) is an extremely rare inherited metabolic disorder that affects the mitochondria — the tiny energy-producing structures inside nearly every cell in your body. In this particular form, the disease primarily damages three organ systems: the liver (hepato-), the brain (cerebro-), and the kidneys (renal). Because mitochondria are responsible for generating the energy cells need to function, organs that requir
How is Mitochondrial DNA depletion syndrome, hepatocerebrorenal form inherited?
Mitochondrial DNA depletion syndrome, hepatocerebrorenal form follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Mitochondrial DNA depletion syndrome, hepatocerebrorenal form typically begin?
Typical onset of Mitochondrial DNA depletion syndrome, hepatocerebrorenal form is neonatal. Age of onset can vary across affected individuals.