OBSOLETE: Hyperdibasic aminoaciduria type 1

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Overview

Hyperdibasic aminoaciduria type 1 is a very rare inherited metabolic condition that affects how the body handles certain amino acids (the building blocks of proteins). Specifically, it involves problems with the transport of "dibasic" amino acids — lysine, arginine, and ornithine — in the kidneys. In this condition, these amino acids are lost in unusually high amounts through the urine because the kidneys cannot reabsorb them properly. This condition is now classified as obsolete in some medical databases, meaning it has been reclassified or merged with other related conditions, most notably lysinuric protein intolerance or other forms of dibasic aminoaciduria. Many patients with this label may actually have a milder or carrier form of a related transport disorder. In type 1, affected individuals are often clinically healthy or have very mild symptoms. The excess amino acids in the urine may be found incidentally during routine metabolic screening. Because this condition is generally benign, most people do not require specific treatment. However, understanding the diagnosis is important because it can be confused with more serious conditions like lysinuric protein intolerance (type 2), which does require medical management. If you have been given this diagnosis, it is worth discussing with a metabolic specialist to confirm the exact type and rule out more serious related disorders.

Key symptoms:

Excess amino acids in the urine (often found on lab tests)Usually no noticeable symptomsPossible mild protein intolerance in some casesOccasional growth concerns in childhood

Inheritance

Autosomal recessive

Passed on when both parents carry the same gene change; often skips generations

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for OBSOLETE: Hyperdibasic aminoaciduria type 1.

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No actively recruiting trials found for OBSOLETE: Hyperdibasic aminoaciduria type 1 at this time.

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No specialists are currently listed for OBSOLETE: Hyperdibasic aminoaciduria type 1.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to OBSOLETE: Hyperdibasic aminoaciduria type 1.

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Community

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Caregiver Resources

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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.Is my condition truly type 1 hyperdibasic aminoaciduria, or could it be lysinuric protein intolerance or another related condition?,Should I or my family members have genetic testing to clarify the diagnosis?,Do I need to follow any dietary restrictions?,How often should my amino acid levels and kidney function be monitored?,Are there any symptoms I should watch for that would suggest a more serious condition?,Could this condition affect my future children, and should I consider genetic counseling?,Is there any new research on this condition that I should know about?

Common questions about OBSOLETE: Hyperdibasic aminoaciduria type 1

What is OBSOLETE: Hyperdibasic aminoaciduria type 1?

Hyperdibasic aminoaciduria type 1 is a very rare inherited metabolic condition that affects how the body handles certain amino acids (the building blocks of proteins). Specifically, it involves problems with the transport of "dibasic" amino acids — lysine, arginine, and ornithine — in the kidneys. In this condition, these amino acids are lost in unusually high amounts through the urine because the kidneys cannot reabsorb them properly. This condition is now classified as obsolete in some medical databases, meaning it has been reclassified or merged with other related conditions, most notably l

How is OBSOLETE: Hyperdibasic aminoaciduria type 1 inherited?

OBSOLETE: Hyperdibasic aminoaciduria type 1 follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.