Overview
Tyrosinemia type 2, also known as Richner-Hanhart syndrome or oculocutaneous tyrosinemia, is a rare inherited metabolic disorder. It happens when the body cannot properly break down an amino acid called tyrosine, which is a building block of protein found in many foods. Without the right enzyme to process it, tyrosine builds up to harmful levels in the blood and body tissues. This buildup causes problems mainly in the eyes, skin, and sometimes the brain. The most common signs include painful, red, watery eyes that are very sensitive to light, and thick, painful skin on the palms of the hands and soles of the feet. Some people also experience intellectual disability or learning difficulties, though this varies from person to person. Symptoms can appear in infancy or early childhood. The good news is that tyrosinemia type 2 is one of the more treatable rare metabolic diseases. The main treatment is a special low-tyrosine, low-phenylalanine diet, which can dramatically reduce symptoms and prevent further damage. When started early, this dietary treatment can protect the eyes, skin, and brain from serious harm. Regular monitoring by a metabolic specialist is important for long-term health.
Also known as:
Key symptoms:
Painful, red, watery eyesExtreme sensitivity to light (photophobia)Thick, painful skin on the palms and soles (palmoplantar keratoderma)Skin lesions or blisters on hands and feetIntellectual disability or learning difficulties (in some patients)Developmental delaysElevated tyrosine levels in the bloodEye inflammation or corneal cloudingBehavioral problems in some childrenNeurological symptoms in some cases
Clinical phenotype terms (17)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
FDA & Trial Timeline
1 eventRyplazim: FDA approved
Treatment of patients with plasminogen deficiency type 1 (hypoplasminogenemia).
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
2 availableEpogen
Treatment of anemia in patients with non-myeloid malignancies where anemia is due to the effect of concomitant myelosuppressive chemotherapy, and upon initiation, there is a minimum of two additional …
Treatment of anemia in patients with non-myeloid malignancies where anemia is due to the effect of concomitant myelosuppressive chemotherapy, and upon initiation, there is a minimum of two additional months of planned chemotherapy
Ryplazim
Treatment of patients with plasminogen deficiency type 1 (hypoplasminogenemia).
Clinical Trials
View all trials with filters →No actively recruiting trials found for Tyrosinemia type 2 at this time.
New trials open frequently. Follow this disease to get notified.
Rare Disease Specialist
Rare Disease Specialist
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 Tyrosinemia type 2.
Community
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Start the conversation →Latest news about Tyrosinemia type 2
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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.How often should we check blood tyrosine levels, and what is our target range?,What foods are safe to eat, and how do we get enough nutrition on this restricted diet?,Will my child need to follow this diet for their entire life?,What are the signs that the diet is not working well enough, and what should we do?,Should other family members be tested for this condition?,What support is available for school accommodations if my child has learning difficulties?,Are there any clinical trials or new treatments we should know about?
Common questions about Tyrosinemia type 2
What is Tyrosinemia type 2?
Tyrosinemia type 2, also known as Richner-Hanhart syndrome or oculocutaneous tyrosinemia, is a rare inherited metabolic disorder. It happens when the body cannot properly break down an amino acid called tyrosine, which is a building block of protein found in many foods. Without the right enzyme to process it, tyrosine builds up to harmful levels in the blood and body tissues. This buildup causes problems mainly in the eyes, skin, and sometimes the brain. The most common signs include painful, red, watery eyes that are very sensitive to light, and thick, painful skin on the palms of the hands
How is Tyrosinemia type 2 inherited?
Tyrosinemia type 2 follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Tyrosinemia type 2 typically begin?
Typical onset of Tyrosinemia type 2 is infantile. Age of onset can vary across affected individuals.
Which specialists treat Tyrosinemia type 2?
6 specialists and care centers treating Tyrosinemia type 2 are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.
What treatment and support options exist for Tyrosinemia type 2?
1 patient support program are currently tracked on UniteRare for Tyrosinemia type 2. See the treatments and support programs sections for copay assistance, eligibility, and contact details.