Overview
2-aminoadipic 2-oxoadipic aciduria (also called alpha-aminoadipic aciduria or 2-oxoadipic aciduria) is a very rare inherited metabolic disorder. It affects the way the body breaks down certain amino acids — the building blocks of protein — specifically lysine, hydroxylysine, and tryptophan. When the enzymes responsible for processing these amino acids do not work properly, unusual substances called 2-aminoadipic acid and 2-oxoadipic acid build up in the blood and urine. This condition is caused by changes (mutations) in the DHTKD1 gene, which provides instructions for making an important enzyme in this chemical pathway. Many people with this condition have no symptoms at all, or only very mild ones, which makes it one of the more puzzling rare metabolic diseases. When symptoms do occur, they can include intellectual disability, developmental delays, low muscle tone, and behavioral differences. The condition is often discovered accidentally during newborn screening or metabolic testing done for other reasons. Because so few cases have been reported worldwide, the full range of symptoms and long-term outlook is not completely understood. There is currently no specific cure or approved drug treatment. Care focuses on managing individual symptoms and supporting development through therapies such as speech, occupational, and physical therapy. Ongoing research is helping scientists better understand this condition.
Also known as:
Key symptoms:
Intellectual disability or learning difficultiesDevelopmental delays (slower to reach milestones like talking or walking)Low muscle tone (floppy muscles)Behavioral problems or differencesElevated levels of unusual acids in the urineElevated levels of unusual acids in the bloodMild facial differences in some individualsSeizures (reported in some cases)
Clinical phenotype terms (11)— hover any for plain English
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
Treatments
No FDA-approved treatments are currently listed for 2-aminoadipic 2-oxoadipic aciduria.
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Specialists
View all specialists →No specialists are currently listed for 2-aminoadipic 2-oxoadipic aciduria.
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 2-aminoadipic 2-oxoadipic 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 symptoms should I watch for that would mean my child needs urgent medical attention?,Should my child follow a special diet, and do we need to see a metabolic dietitian?,What therapies (speech, physical, occupational) would benefit my child most right now?,Should other family members be tested to see if they are carriers?,Are there any research studies or patient registries we should consider joining?,How often should we have follow-up metabolic testing, and what are we monitoring for?,What school or educational supports should we be asking for?
Common questions about 2-aminoadipic 2-oxoadipic aciduria
What is 2-aminoadipic 2-oxoadipic aciduria?
2-aminoadipic 2-oxoadipic aciduria (also called alpha-aminoadipic aciduria or 2-oxoadipic aciduria) is a very rare inherited metabolic disorder. It affects the way the body breaks down certain amino acids — the building blocks of protein — specifically lysine, hydroxylysine, and tryptophan. When the enzymes responsible for processing these amino acids do not work properly, unusual substances called 2-aminoadipic acid and 2-oxoadipic acid build up in the blood and urine. This condition is caused by changes (mutations) in the DHTKD1 gene, which provides instructions for making an important enzym
How is 2-aminoadipic 2-oxoadipic aciduria inherited?
2-aminoadipic 2-oxoadipic aciduria follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.