Overview
Disorder of tyrosine metabolism is a group of rare inherited conditions where the body cannot properly break down the amino acid tyrosine. Tyrosine is a building block of protein that we get from the foods we eat. Normally, the body breaks tyrosine down through a series of chemical steps, each requiring a specific enzyme. When one of these enzymes is missing or not working correctly, tyrosine and its byproducts build up in the blood and tissues, which can cause damage to organs like the liver, kidneys, eyes, and skin. This group includes several specific conditions, most notably tyrosinemia type I (also called hepatorenal tyrosinemia), tyrosinemia type II (also called Richner-Hanhart syndrome), and tyrosinemia type III. Symptoms vary depending on the specific type but can include liver problems, kidney dysfunction, eye pain and sensitivity to light, skin thickening on the palms and soles, and in some cases developmental delays. Tyrosinemia type I is the most severe form and can cause liver failure in infancy if untreated. The treatment landscape has improved significantly, especially for tyrosinemia type I, thanks to the drug nitisinone (Orfadin), which blocks the buildup of toxic byproducts. A special low-protein diet restricted in tyrosine and phenylalanine is also a cornerstone of treatment for all types. Early diagnosis through newborn screening programs has greatly improved outcomes for many patients.
Key symptoms:
Liver problems or liver failureKidney dysfunctionFailure to thrive or poor weight gain in infantsEye pain and sensitivity to lightThickened skin on palms and solesCabbage-like body odorEpisodes of severe nerve pain in the legs or abdomenRickets or bone problemsYellowing of the skin and eyes (jaundice)Bleeding or bruising easilyEnlarged liverDevelopmental delays or intellectual disability (in some types)Irritability in infantsVomiting and diarrheaDark urine
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 tyrosine metabolism.
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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 tyrosine metabolism.
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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.What specific type of tyrosine metabolism disorder does my child (or I) have, and what gene is affected?,How will we monitor for liver damage or liver cancer, and how often are imaging and blood tests needed?,What are the exact dietary restrictions, and can we be referred to a metabolic dietitian experienced with this condition?,Is nitisinone appropriate for our specific type, and what are the potential side effects?,What are the warning signs of a metabolic crisis or emergency, and what should we do if they occur?,Will my child need liver transplantation, and what factors would lead to that decision?,What is the chance that future children could also have this condition, and should family members be tested?
Common questions about Disorder of tyrosine metabolism
What is Disorder of tyrosine metabolism?
Disorder of tyrosine metabolism is a group of rare inherited conditions where the body cannot properly break down the amino acid tyrosine. Tyrosine is a building block of protein that we get from the foods we eat. Normally, the body breaks tyrosine down through a series of chemical steps, each requiring a specific enzyme. When one of these enzymes is missing or not working correctly, tyrosine and its byproducts build up in the blood and tissues, which can cause damage to organs like the liver, kidneys, eyes, and skin. This group includes several specific conditions, most notably tyrosinemia t
How is Disorder of tyrosine metabolism inherited?
Disorder of tyrosine metabolism follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
Which specialists treat Disorder of tyrosine metabolism?
7 specialists and care centers treating Disorder of tyrosine metabolism are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.