Living with Neutral 1 amino acid transport defect
A condition (Hartnup disease) in which the body can't absorb certain protein building blocks, often with no symptoms other than amino acids in the urine.
Understanding Neutral 1 amino acid transport defect
Most people can get what they need with a well-balanced diet. People have high levels of amino acids in the urine (aminoaciduria). For most, this is the only sign. Some have episodes with other signs, such as skin rashes, poor coordination, and mood or thinking changes. These episodes are usually temporary and are often triggered by illness, stress, a nutrient-poor diet, or fever. Signs most commonly occur in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Amino acids in the urine
- Skin rash, especially after sun exposure
- Poor coordination (ataxia)
- Anxiety and mood swings
- Sensitivity to light
- Migraine
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 brain and nervous system specialists, genetic specialists, kidney specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in SLC6A19 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
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Kidney specialists (nephrologists); Skin, hair, and nail specialists (dermatologists)
- 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 National Kidney Foundation and other patient organizations
- 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
GARD lists changes in the SLC6A19 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: aminoaciduria, hartnup type; deficiency of tryptophan oxygenase; hartnup disease; hartnup disorder; hnd; neutral amino acid transport defect
Patient organizations
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Neutral 1 amino acid transport defect.
Explore research for Neutral 1 amino acid transport defect
Explore actively recruiting Neutral 1 amino acid transport defect studies with HealthSpark.
Find actively recruiting studies for Neutral 1 amino acid transport defect with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Neutral 1 amino acid transport defect studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Neutral 1 amino acid transport defect
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Neutral 1 amino acid transport defect experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.