Overview
Cerebral organic aciduria (Orphanet code 79158) is a rare inherited metabolic disorder where the body cannot properly break down certain proteins and fats. This leads to a buildup of harmful organic acids in the blood, urine, and brain. Unlike some other organic acid disorders that mainly affect the body, this condition has a strong impact on the brain and nervous system. It is sometimes referred to as a cerebral organic acid disorder or brain-affecting organic aciduria. The buildup of toxic acids can damage brain cells over time, leading to a range of neurological problems. Common symptoms include intellectual disability, developmental delays, seizures, and movement difficulties. Some children may appear healthy at birth but begin showing symptoms in infancy or early childhood, especially during times of illness or stress when the body breaks down more protein. Treatment focuses on reducing the buildup of harmful acids through a special low-protein diet, vitamin supplements, and medications that help the body clear toxins. While there is currently no cure, early diagnosis and careful management can significantly improve quality of life and slow the progression of brain damage. Lifelong monitoring by a metabolic specialist is essential.
Key symptoms:
Intellectual disability or learning difficultiesDevelopmental delays (late talking, late walking)Seizures or epilepsyMovement problems or poor coordinationMuscle weakness or low muscle toneBehavioral problems or autism-like featuresEpisodes of metabolic crisis (vomiting, extreme tiredness, confusion)Abnormal brain MRI findingsSpeech and language delaysFeeding difficulties in infancy
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 eventin pediatric and adult patients as adjunctive therapy to standard of care for the treatment of acute hyperammonemia due to propionic acidemia (PA) or methylmalonic acidemia (MMA)
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Cerebral organic aciduria.
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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 Cerebral organic aciduria.
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 type of cerebral organic aciduria does my child have, and what gene is involved?,What does the emergency sick day protocol look like, and when should we go to the emergency room?,How strict does the low-protein diet need to be, and can a dietitian help us plan meals?,What signs of neurological decline should I watch for, and how often should brain MRIs be done?,Are there any clinical trials or new treatments we should know about?,How will this condition affect my child's development and schooling long-term?,Should other family members be tested for this condition?
Common questions about Cerebral organic aciduria
What is Cerebral organic aciduria?
Cerebral organic aciduria (Orphanet code 79158) is a rare inherited metabolic disorder where the body cannot properly break down certain proteins and fats. This leads to a buildup of harmful organic acids in the blood, urine, and brain. Unlike some other organic acid disorders that mainly affect the body, this condition has a strong impact on the brain and nervous system. It is sometimes referred to as a cerebral organic acid disorder or brain-affecting organic aciduria. The buildup of toxic acids can damage brain cells over time, leading to a range of neurological problems. Common symptoms i
How is Cerebral organic aciduria inherited?
Cerebral organic aciduria follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
Which specialists treat Cerebral organic aciduria?
2 specialists and care centers treating Cerebral organic aciduria are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.