Overview
Histidinuria with renal tubular defect (also called histidinuria-renal tubular defect syndrome) is a very rare inherited metabolic disorder. It affects how the body handles an amino acid called histidine — one of the building blocks of protein. Normally, the kidneys filter histidine and send it back into the bloodstream. In this condition, the kidneys cannot hold onto histidine properly, so too much of it is lost in the urine. At the same time, the gut may also have trouble absorbing histidine from food. This is different from simple histidinuria, where only the gut is affected. Because histidine plays a role in brain development and other body functions, losing too much of it may cause problems over time. Some people with this condition have intellectual disability or developmental delays, though the severity can vary a great deal from person to person. Some individuals appear to have very mild or even no obvious symptoms. Treatment is mainly supportive and focuses on managing symptoms. There is no specific cure. A diet adjusted to ensure enough histidine intake may be recommended, and regular monitoring by a metabolic specialist is important. Because this condition is so rare, much is still being learned about its full range of effects and the best ways to manage it.
Key symptoms:
High levels of histidine in the urineIntellectual disability or learning difficultiesDevelopmental delaysSpeech and language delaysPoor muscle toneBehavioral problemsSeizures in some casesPoor growth or failure to thrive in some children
Clinical phenotype terms (14)— hover any for plain English
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 Histidinuria-renal tubular defect syndrome.
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Specialists
View all specialists →No specialists are currently listed for Histidinuria-renal tubular defect syndrome.
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 Histidinuria-renal tubular defect syndrome.
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Caregiver Resources
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Questions for your doctor
Bring these to your next appointment
- Q1.What level of histidine in my child's urine is considered dangerous, and how often should we test it?,Should my child see a dietitian, and do we need to change their diet to include more histidine-rich foods?,What therapies do you recommend to support my child's development?,Should we do genetic testing, and could this affect other family members or future pregnancies?,What signs should prompt me to seek emergency care?,Are there any clinical trials or research studies we could participate in?,How often should my child's kidney function be monitored?
Common questions about Histidinuria-renal tubular defect syndrome
What is Histidinuria-renal tubular defect syndrome?
Histidinuria with renal tubular defect (also called histidinuria-renal tubular defect syndrome) is a very rare inherited metabolic disorder. It affects how the body handles an amino acid called histidine — one of the building blocks of protein. Normally, the kidneys filter histidine and send it back into the bloodstream. In this condition, the kidneys cannot hold onto histidine properly, so too much of it is lost in the urine. At the same time, the gut may also have trouble absorbing histidine from food. This is different from simple histidinuria, where only the gut is affected. Because histi
How is Histidinuria-renal tubular defect syndrome inherited?
Histidinuria-renal tubular defect syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.