Living with 2-aminoadipic 2-oxoadipic aciduria
A rare metabolic condition affecting how the body breaks down certain amino acids; some people have no symptoms.
Understanding 2-aminoadipic 2-oxoadipic aciduria
It is found by testing, which shows certain acids in the urine. Some people have low muscle tone, developmental delay, learning challenges, poor balance (ataxia), epilepsy, or behavior concerns such as ADHD. Many people with the test finding have no symptoms at all, so how much it matters is unclear. GARD lists onset as infant and child.
Signs & symptoms
GARD lists no common symptoms. These are listed as less common, and many people have none:
- Delayed speech and language
- Global developmental delay
- Intellectual disability
- Attention deficit
- Autism
- Small head size
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists.
- 3Consider genetic testing
Changes in DHTKD1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the DHTKD1 gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: aakad; alpha-aminoadipic aciduria; alpha-aminoadipic and alpha-ketoadipic aciduria; amino adipic aciduria; aminoadipic aciduria; amoxad
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with 2-aminoadipic 2-oxoadipic aciduria.
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