Living with Dicarboxylic aminoaciduria
A rare metabolic condition in which the amino acids aspartate and glutamate are lost in the urine.
Understanding Dicarboxylic aminoaciduria
Symptoms have varied greatly among the few people reported. GARD lists onset in the newborn or infant period.
Signs & symptoms
Symptoms vary a lot from person to person. GARD lists these among the most common:
- Kidney stones
- Intellectual disability
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 SLC1A1 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 SLC1A1 gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: dcbxa; dicarboxylic aminoaciduria syndrome; dicarboxylicaminoaciduria; glutamate aspartate transport defect; glutamate-aspartate transport defect
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 Dicarboxylic aminoaciduria.
Explore research for Dicarboxylic aminoaciduria
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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