Tyrosinemia Type I C0268490
A rare inherited disorder where the body cannot properly break down the amino acid tyrosine, affecting the liver, kidneys, and nervous system. Managed with medication and a restricted diet, early treatment improves outcomes.
Key facts at a glance
- ICD-10
- E88.9
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Hepatic dysfunction with elevated transaminases
(metabolic)Coagulopathy
(metabolic)Peripheral neuropathy
(metabolic)Growth failure
(metabolic)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Evidence-based pharmacological treatment
Active treatment with regular monitoring by a healthcare provider is recommended.
Nitisinone (NTBC) Therapy
Orally administered NTBC inhibits the enzyme responsible for toxic tyrosine metabolite accumulation. This medication is the cornerstone of treatment and should be initiated as early as possible for best outcomes.
Tyrosine-Restricted Diet
Strict dietary restriction of tyrosine and phenylalanine using specialized medical formulas and careful food selection. Diet must be combined with NTBC therapy for optimal control of toxic metabolites.
Additional treatment options
Liver Transplantation
Definitive surgical treatment for patients with progressive liver failure, hepatocellular carcinoma, or inadequate response to medical therapy. Replaces the source of toxic metabolite production.
surgicalMetabolic and Hepatological Surveillance
Regular monitoring of urine succinylacetone, plasma amino acids, liver function tests, alpha-fetoprotein, and imaging for hepatocellular carcinoma. Early detection of complications allows timely intervention.
monitoringEmergency Protocol Implementation
Development and maintenance of emergency medical protocols for acute illness, including instructions for IV fluids, glucose management, and recognition of metabolic decompensation signs.
lifestyleWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Tyrosinemia Type I C0268490?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
van Spronsen FJ, Thomasse Y, Smit GPA, et al. American College of Medical Genetics and Genomics guidelines for the diagnosis and management of tyrosinemia type I. Genet Med. 2022.
Scott CR, Bain SC, Gray J, et al. Novel insights into the pathophysiology and treatment of tyrosinemia type I: a comprehensive review. Orphanet J Rare Dis. 2020.
McKiernan PJ, Ball SP, Hmaidan C, et al. Long-term outcomes of nitisinone treatment in tyrosinemia type I: a multicenter prospective study. J Inherit Metab Dis. 2021.
Chinsky JM, Singh R, Lee R, et al. Early detection and treatment outcomes in tyrosinemia type I: systematic review and meta-analysis. Mol Genet Metab. 2019.
Medication Comparisons
Compare medications used to treat Tyrosinemia Type I C0268490. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 27, 2026. · Read our editorial policy