Overview
Organic aciduria (also called organic acidemia or organic acid disorder) is a group of rare inherited metabolic diseases in which the body cannot properly break down certain proteins or fats. This leads to a buildup of harmful organic acids in the blood and urine. These conditions are caused by missing or poorly functioning enzymes that are needed to process amino acids and other substances from the food we eat. When organic acids build up in the body, they can damage the brain, heart, kidneys, and other organs. Symptoms often appear in newborns or young children and can include poor feeding, vomiting, extreme tiredness, low muscle tone, seizures, and developmental delays. During times of illness or stress, a person with organic aciduria can experience a sudden and dangerous worsening of symptoms called a metabolic crisis, which can be life-threatening if not treated quickly. Treatment typically involves a carefully controlled diet that limits the proteins or fats the body cannot process, along with special medical formulas and supplements such as carnitine. Some patients may need emergency treatment with intravenous fluids and glucose during metabolic crises. Early diagnosis through newborn screening has greatly improved outcomes for many children with these conditions. While there is no cure for most organic acidurias, ongoing management can help prevent complications and improve quality of life.
Key symptoms:
Poor feeding or refusal to eatFrequent vomitingExtreme tiredness or lethargyLow muscle tone (floppy baby)SeizuresDevelopmental delaysIntellectual disabilityUnusual body odorFailure to grow and gain weight properlyBreathing problemsMovement problems or involuntary movementsEpisodes of metabolic crisis during illnessLow blood sugarEnlarged liverBehavioral changes or irritability
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Variable
Can begin at different ages, from infancy through adulthood
FDA & Trial Timeline
1 eventNational Human Genome Research Institute (NHGRI) — NA
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Organic aciduria.
1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Rare Disease Specialist
Treatment Centers
8 centersNational Institutes of Health Clinical Center
📍 Bethesda, Maryland
👤 Payal P Khincha, M.D.
👤 Christopher Grunseich, M.D.
Children's National Medical Center
📍 Washington D.C., District of Columbia
👤 Richard Neibeger, MD
UPMC Children's Hospital of Pittsburgh
📍 Pittsburgh, Pennsylvania
Stanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
Travel Grants
No travel grants are currently matched to Organic aciduria.
Community
No community posts yet. Be the first to share your experience with Organic aciduria.
Start the conversation →Latest news about Organic aciduria
1 articlesCaregiver 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 type of organic aciduria does my child have, and what gene is affected?,What foods need to be restricted, and can we work with a metabolic dietitian to create a meal plan?,What is the emergency sick day protocol, and when should we go to the emergency room?,How often will my child need blood and urine tests to monitor their condition?,What are the long-term risks for brain development, kidney function, and heart health?,Is liver transplantation something we should consider now or in the future?,Are there any clinical trials or new treatments being studied for this condition?
Common questions about Organic aciduria
What is Organic aciduria?
Organic aciduria (also called organic acidemia or organic acid disorder) is a group of rare inherited metabolic diseases in which the body cannot properly break down certain proteins or fats. This leads to a buildup of harmful organic acids in the blood and urine. These conditions are caused by missing or poorly functioning enzymes that are needed to process amino acids and other substances from the food we eat. When organic acids build up in the body, they can damage the brain, heart, kidneys, and other organs. Symptoms often appear in newborns or young children and can include poor feeding,
How is Organic aciduria inherited?
Organic aciduria follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
Are there clinical trials for Organic aciduria?
Yes — 1 recruiting clinical trial is currently listed for Organic aciduria on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Organic aciduria?
18 specialists and care centers treating Organic aciduria are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.