Overview
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome is a very rare inherited condition that affects multiple body systems, including the brain, muscles, and heart. It is sometimes referred to by the abbreviation MERCA syndrome or by its Orphanet code 480864. The condition is caused by changes (mutations) in a specific gene that disrupts how cells produce energy, leading to a group of serious and recurring health problems. People with this syndrome experience repeated episodes called 'metabolic crises,' during which the body's energy systems break down. These crises can cause severe muscle breakdown (called rhabdomyolysis), dangerous heart rhythm problems (arrhythmias), and episodes of brain and muscle dysfunction (encephalomyopathy). Between crises, individuals may have intellectual disability and ongoing muscle weakness. The crises are often triggered by illness, fever, fasting, or physical stress. There is currently no cure for this condition. Treatment focuses on preventing and managing crises, protecting the heart, and supporting brain and muscle function. Early diagnosis is very important because prompt treatment during a crisis can be life-saving. A team of specialists is needed to manage the many aspects of this complex disease.
Key symptoms:
Repeated episodes of severe muscle breakdown (rhabdomyolysis)Irregular or dangerous heart rhythms (cardiac arrhythmia)Episodes of brain and muscle dysfunction (encephalomyopathic crises)Intellectual disability or learning difficultiesMuscle weaknessFatigue and low energyDark or brown-colored urine during crises (from muscle breakdown products)Muscle pain or crampingDevelopmental delaysSeizures during crisesConfusion or altered consciousness during episodes
Clinical phenotype terms (50)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
FDA & Trial Timeline
1 eventBaylor College of Medicine
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome.
1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Specialists
View all specialists →No specialists are currently listed for Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome.
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 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability 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 specific mutations were found in the TANGO2 gene, and what do they mean for my child's prognosis?,What should our emergency action plan look like, and what should we tell emergency room staff?,Should my child take riboflavin or selenium supplements, and how will we know if they are helping?,How often does my child need heart monitoring, and what cardiac symptoms should prompt an emergency visit?,Are there any dietary restrictions or activity limits we need to follow to reduce the risk of a crisis?,Are there any clinical trials or research studies we could participate in?,What support services are available for intellectual disability and developmental delays?
Common questions about Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
What is Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome?
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome is a very rare inherited condition that affects multiple body systems, including the brain, muscles, and heart. It is sometimes referred to by the abbreviation MERCA syndrome or by its Orphanet code 480864. The condition is caused by changes (mutations) in a specific gene that disrupts how cells produce energy, leading to a group of serious and recurring health problems. People with this syndrome experience repeated episodes called 'metabolic crises,' during which the body's energy
How is Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome inherited?
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome typically begin?
Typical onset of Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome is infantile. Age of onset can vary across affected individuals.
Are there clinical trials for Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome?
Yes — 1 recruiting clinical trial is currently listed for Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.