Living with Transient tyrosinemia of the newborn
A short-term difference in how newborns process an amino acid, found on newborn screening, often in premature babies.
Understanding Transient tyrosinemia of the newborn
Related blood and urine findings usually go away after 2 months of age. It causes no symptoms and is found by newborn screening. It is often seen in premature babies.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet.
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with flok
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in genes (variants) cause this condition, but it doesn't name a specific gene. It describes a temporary difference in how the body handles tyrosine.
Also known as: neonatal tyrosinemia; transient neonatal hypertyrosinemia; transient neonatal tyrosinemia; transient tyrosinemia of the neonate; transitory neonatal tyrosinemia
Patient organizations
- flokTransient tyrosinemia of the newborn · United States
You are more than your diagnosis
Perspectives from people navigating life with Transient tyrosinemia of the newborn.
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