Overview
Disorder of lysosomal amino acid transport (Orphanet code 79207) is a rare inherited metabolic condition that affects how the body moves amino acids — the building blocks of proteins — in and out of a part of the cell called the lysosome. Lysosomes act like the cell's recycling centers, breaking down old proteins and other materials. When the transport system that moves amino acids out of the lysosome is broken, these building blocks can build up inside the cell and cause damage over time. The best-known condition in this group is cystinosis, where the amino acid cystine accumulates inside lysosomes throughout the body. This can damage many organs, especially the kidneys, eyes, muscles, and thyroid gland. Another related condition is Salla disease (free sialic acid storage disease), where sialic acid builds up and mainly affects the brain and nervous system. Symptoms vary depending on the specific transport protein affected, but often include kidney problems, eye changes, muscle weakness, and developmental delays. Treatment depends on the specific condition. For cystinosis, a drug called cysteamine (brand name Cystagon or Procysbi) can reduce cystine buildup and slow organ damage. For other conditions in this group, treatment is mainly supportive, focusing on managing symptoms and protecting affected organs. Early diagnosis is very important because starting treatment early can significantly improve long-term outcomes.
Key symptoms:
Kidney problems, including protein or sugar leaking into the urineFailure to grow or gain weight normally in infancy or childhoodIncreased thirst and frequent urinationCrystals in the eyes causing light sensitivity or vision problemsMuscle weakness or difficulty walkingIntellectual disability or developmental delaysThyroid gland problemsSwallowing difficultiesRecurrent vomiting or poor appetiteBone pain or softening of the bonesEnlarged liver or spleenFatigue and low energy
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 lysosomal amino acid transport.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Disorder of lysosomal amino acid transport at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Disorder of lysosomal amino acid transport.
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 lysosomal amino acid transport.
Community
No community posts yet. Be the first to share your experience with Disorder of lysosomal amino acid transport.
Start the conversation →Latest news about Disorder of lysosomal amino acid transport
No recent news articles for Disorder of lysosomal amino acid transport.
Follow this condition to be notified when news becomes available.
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.Which specific gene is affected in my (or my child's) case, and what does that mean for the type and severity of disease?,What treatment is available for my specific condition, and how soon should we start?,How often do we need to monitor kidney function, eyes, and other organs?,Are there clinical trials or new treatments I should know about?,What dietary changes, if any, are recommended?,What are the signs that the disease is getting worse, and when should I go to the emergency room?,Are other family members at risk, and should they be tested?
Common questions about Disorder of lysosomal amino acid transport
What is Disorder of lysosomal amino acid transport?
Disorder of lysosomal amino acid transport (Orphanet code 79207) is a rare inherited metabolic condition that affects how the body moves amino acids — the building blocks of proteins — in and out of a part of the cell called the lysosome. Lysosomes act like the cell's recycling centers, breaking down old proteins and other materials. When the transport system that moves amino acids out of the lysosome is broken, these building blocks can build up inside the cell and cause damage over time. The best-known condition in this group is cystinosis, where the amino acid cystine accumulates inside ly
How is Disorder of lysosomal amino acid transport inherited?
Disorder of lysosomal amino acid transport follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.