E70.21
Tyrosinemia
Clinical Classification Guidelines
Inclusion Terms
- Hypertyrosinemia
Medical Intelligence & Overview
Tyrosinemia is a rare inherited metabolic disorder characterized by an inability to properly break down the amino acid tyrosine. This condition leads to an accumulation of tyrosine in the body, which can cause various health problems. Also known as hypertyrosinemia, this disorder can manifest early in life or later, depending on the type and severity. Managing tyrosinemia involves monitoring tyrosine levels and, in some cases, implementing specific dietary restrictions to prevent complications.
Causes & Symptoms
Clinical Causes: Genetic mutations affecting enzymes involved in tyrosine metabolism Inheritance pattern is autosomal recessive, meaning both parents must pass on the defective gene Different types of tyrosinemia are caused by deficiencies in specific enzymes, such as fumarylacetoacetate hydrolase (Type I) or 4-hydroxyphenylpyruvate dioxygenase (Type II) No environmental or lifestyle factors directly cause the disorder
Key Symptoms: Poor feeding and failure to thrive in infants Elevated levels of tyrosine in the blood (hypertyrosinemia) Liver dysfunction, including hepatomegaly (enlarged liver), jaundice, and in severe cases, cirrhosis Kidney problems and renal tubular dysfunction Neurological issues, such as developmental delays or neurological crises Skin problems, including eye and skin lesions in some types Vomiting, diarrhea, or abdominal pain Increased risk of liver cancers if untreated
Diagnostic & Treatment
Diagnosis Path: The diagnosis of tyrosinemia involves a combination of blood and urine tests. Elevated tyrosine levels in the blood are key indicators. Additionally, specialized tests measure enzyme activity levels related to tyrosine breakdown pathways. Newborn screening programs may detect elevated tyrosine levels early, enabling prompt diagnosis and management. Genetic testing can confirm the specific type of tyrosinemia by identifying mutations in relevant genes.
Treatment Protocols: Management of tyrosinemia focuses on reducing tyrosine levels and preventing complications. Treatment options include: - Dietary restrictions: Limiting intake of tyrosine and phenylalanine through specialized diets - Medications: Nitisinone (NTBC) is commonly used to block further accumulation of toxic metabolites - Regular monitoring: Tracking blood tyrosine levels and liver/kidney function - Supportive care: Addressing liver or kidney issues as they arise, including the possibility of liver transplantation in severe cases - Multidisciplinary approach: Involving dietitians, hepatologists, and metabolic specialists for comprehensive care Early detection and consistent management are essential to improve quality of life and reduce the risk of severe health problems associated with tyrosinemia.
Clinical Advice & FAQs
Billing Guidance
Is E70.21 a billable ICD-10 code?
Yes, E70.21 is a specific, billable code that can be used to indicate a diagnosis for reimbursement purposes.
Documentation
How do I report E70.21?
Clinical documentation must specify the nature of Tyrosinemia and any associated comorbidities for accurate reporting.
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