Overview
Disorders of amino acid absorption and transport are a group of rare inherited conditions where the body cannot properly absorb or move certain amino acids — the building blocks of proteins — through the walls of the intestine and kidneys. Normally, special proteins called transporters act like tiny doors that let amino acids pass from food into the bloodstream and help the kidneys recycle them back into the body. When these transporters are faulty due to a gene change, amino acids are lost in the urine and not properly absorbed from food, leading to deficiencies that can affect many body systems. The symptoms and severity vary widely depending on which transporter is affected. Some people have very mild symptoms or none at all, while others experience skin rashes, neurological problems, poor growth, or kidney issues. Common examples in this group include Hartnup disorder, cystinuria, lysinuric protein intolerance, and iminoglycinuria. Each has its own pattern of amino acids affected and its own set of symptoms. Treatment is generally focused on managing symptoms and preventing complications. This often includes dietary changes, vitamin or amino acid supplements, and in some cases specific medications. With proper management, many people with these conditions can live relatively normal lives, though lifelong monitoring is usually needed.
Key symptoms:
Skin rash that gets worse in sunlight (pellagra-like rash)Diarrhea or loose stoolsPoor growth or failure to thrive in childrenKidney stones (especially in cystinuria)Muscle weaknessNeurological problems such as unsteady walking or coordination difficultiesIntellectual disability or learning difficulties in some subtypesPsychiatric symptoms such as mood changes or confusionFrequent urinary tract infectionsEnlarged liver or spleen (in lysinuric protein intolerance)Protein intolerance — feeling sick after eating protein-rich foodsAnemia (low red blood cell count)Recurrent episodes of vomiting
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 Disorder of amino acid absorption and transport.
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Specialists
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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 Disorder of amino acid absorption and transport.
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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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.Which specific type of amino acid transport disorder does my child or I have, and which gene is affected?,What dietary changes do I need to make, and should I work with a metabolic dietitian?,What supplements do I need to take, and how will we know if they are working?,How often do I need blood and urine tests to monitor my condition?,What symptoms should prompt me to go to the emergency room?,Is genetic counseling recommended for other family members?,Are there any clinical trials or new treatments I should know about?
Common questions about Disorder of amino acid absorption and transport
What is Disorder of amino acid absorption and transport?
Disorders of amino acid absorption and transport are a group of rare inherited conditions where the body cannot properly absorb or move certain amino acids — the building blocks of proteins — through the walls of the intestine and kidneys. Normally, special proteins called transporters act like tiny doors that let amino acids pass from food into the bloodstream and help the kidneys recycle them back into the body. When these transporters are faulty due to a gene change, amino acids are lost in the urine and not properly absorbed from food, leading to deficiencies that can affect many body syst
How is Disorder of amino acid absorption and transport inherited?
Disorder of amino acid absorption and transport follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.