Overview
Disorders of energy metabolism are a broad group of rare inherited conditions where the body cannot properly produce or use energy at the cellular level. Every cell in your body needs energy to function, and this energy is made through a series of chemical steps inside cells. When one or more of these steps does not work correctly due to a faulty gene, cells — especially in organs that need a lot of energy like the brain, heart, and muscles — can struggle or fail to work properly. These disorders can affect many different parts of the body at the same time. Common problems include muscle weakness, developmental delays, seizures, heart problems, and difficulty tolerating exercise. Some forms mainly affect the nervous system, while others cause problems with the liver, kidneys, or other organs. Symptoms can range from mild to very severe depending on which specific disorder a person has. Treatment varies widely depending on the exact type of energy metabolism disorder. Some people benefit from special diets, vitamin supplements, or cofactor therapies that help the affected pathway work better. Others may need medications to manage symptoms like seizures or heart problems. While there is no cure for most of these conditions, early diagnosis and careful management can significantly improve quality of life and slow disease progression in many cases.
Key symptoms:
Muscle weakness or low muscle toneExtreme tiredness or fatigue, especially with exerciseDevelopmental delays in walking, talking, or learningSeizuresHeart problems such as an enlarged or weakened heartDifficulty feeding in infancyPoor growth or failure to thriveLiver problems or enlarged liverVision or hearing lossIntellectual disabilityEpisodes of metabolic crisis, especially during illness or fastingAbnormal levels of lactic acid in the bloodBreathing difficultiesMovement problems or coordination difficulties
Variable
Can be inherited in different ways depending on the underlying gene
Variable
Can begin at different ages, from infancy through adulthood
FDA & Trial Timeline
10 eventsEmory University — NA
National Taiwan Normal University — NA
University of Ulm — NA
Mount Sinai Hospital, Canada — PHASE3
Fakultas Kedokteran Universitas Padjadjaran — NA
Assistance Publique - Hôpitaux de Paris — PHASE2
Novo Nordisk A/S — PHASE1
Centre Hospitalier Emile Roux — NA
Nanjing Nutrabuilding Bio-tech Co., Ltd. — NA
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Disorder of energy metabolism.
3 clinical trialsare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Rare Disease Specialist
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 Disorder of energy metabolism.
Community
No community posts yet. Be the first to share your experience with Disorder of energy metabolism.
Start the conversation →Latest news about Disorder of energy metabolism
Disease timeline:
New recruiting trial: Improved Muscle Metabolism by Combination of Muscle Activation and Protein Substitution ( IMEMPRO )
A new clinical trial is recruiting patients for Disorder of energy metabolism
New recruiting trial: The Effects of Increasing Caloric Intake on Diet-Induced Thermogenesis and 24h Energy Expenditure
A new clinical trial is recruiting patients for Disorder of energy metabolism
New recruiting trial: Effects of Dihydroberberine (DHB) on GLP-1, Glycemic Control, Appetite, and Mood in Adults With Pre-Diabetes
A new clinical trial is recruiting patients for Disorder of energy metabolism
New recruiting trial: The Impact of Daily Intake of Short-chain Fatty Acids on Cardiometabolic Risk Factors in Individuals at Risk for Metabolic Syndrome
A new clinical trial is recruiting patients for Disorder of energy metabolism
New recruiting trial: Ketogenic and Nutritional Interventions for First Episode Bipolar Disorder
A new clinical trial is recruiting patients for Disorder of energy metabolism
New recruiting trial: Effect of Nicotinamide Riboside on Ketosis, Fat Oxidation & Metabolic Rate
A new clinical trial is recruiting patients for Disorder of energy metabolism
New recruiting trial: Suitability of Two Flavours of a High-energy, Low-protein Formula (Renalive® LP) in Chronic Kidney Disease Stage 3b-5 Outpatients in Taiwan
A new clinical trial is recruiting patients for Disorder of energy metabolism
New recruiting trial: A Study to See How Metabolism is Influenced by Weight Loss Due to Intervention With Cagrilintide and Semaglutide Compared to Diet
A new clinical trial is recruiting patients for Disorder of energy metabolism
New recruiting trial: Effects of Ketone Bodies on Insulin Sensitivity
A new clinical trial is recruiting patients for Disorder of energy metabolism
New recruiting trial: Effect of a Specialized Oral Supplement on Nutritional Status and Quality of Life in Non-dialysis CKD
A new clinical trial is recruiting patients for Disorder of energy metabolism
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.Which specific type of energy metabolism disorder does my child or I have, and what does that mean for our daily life?,What dietary changes or restrictions are needed, and can we work with a metabolic dietitian?,What are the warning signs of a metabolic crisis, and what should we do if one happens?,Are there any vitamin supplements or cofactor treatments that might help in our specific case?,Should other family members be tested for this condition?,Are there any clinical trials or new treatments we should know about?,What specialists should be part of our care team, and how often should we have check-ups?
Common questions about Disorder of energy metabolism
What is Disorder of energy metabolism?
Disorders of energy metabolism are a broad group of rare inherited conditions where the body cannot properly produce or use energy at the cellular level. Every cell in your body needs energy to function, and this energy is made through a series of chemical steps inside cells. When one or more of these steps does not work correctly due to a faulty gene, cells — especially in organs that need a lot of energy like the brain, heart, and muscles — can struggle or fail to work properly. These disorders can affect many different parts of the body at the same time. Common problems include muscle weak
Are there clinical trials for Disorder of energy metabolism?
Yes — 3 recruiting clinical trials are currently listed for Disorder of energy metabolism on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Disorder of energy metabolism?
25 specialists and care centers treating Disorder of energy metabolism are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.