Tyrosinemia

Tyrosinemia is a rare genetic disorder characterized by the body's inability to effectively break down the amino acid tyrosine. There are three types of tyrosinemia, with the most common being Tyrosinemia Type I. Clinical manifestations may include:

1. **Liver Involvement:**
   - Hepatomegaly (enlarged liver) is a common finding.
   - Liver dysfunction and damage can lead to jaundice.

2. **Renal Involvement:**
   - Kidney problems may occur, leading to renal dysfunction.

3. **Neurological Symptoms:**
   - In some cases, neurological symptoms may develop, including developmental delay and intellectual disability.
   - Peripheral neuropathy may occur.

4. **Cabbage-like Odor:**
   - Affected individuals may have a characteristic "cabbage-like" odor due to the accumulation of certain byproducts.

5. **Gastrointestinal Symptoms:**
   - Vomiting and diarrhea may be present, especially in infants.

6. **Failure to Thrive:**
   - Infants may experience poor weight gain and growth.

7. **Rickets:**
   - Skeletal abnormalities, such as rickets, may occur due to impaired vitamin D metabolism.

8. **Hypoglycemia:**
   - Low blood sugar levels (hypoglycemia) can occur, leading to symptoms like lethargy and irritability.

9. **Risk of Hepatocellular Carcinoma:**
   - Long-term complications may include an increased risk of hepatocellular carcinoma (liver cancer).

**Tyrosinemia Type I Specifics:**
   - **Key Enzyme:** Tyrosinemia Type I is caused by a deficiency of the enzyme fumarylacetoacetate hydrolase (FAH).
   - **Prevalence:** It is the most severe form of tyrosinemia and is relatively rare.
   - **Diagnosis:** Newborn screening and confirmatory testing involving blood and urine analyses, as well as genetic testing.
   - **Treatment:** Dietary management, including a low-tyrosine diet and the use of medications (such as nitisinone), can help manage symptoms. Liver transplantation may be considered in severe cases.
Early diagnosis and intervention are crucial for managing tyrosinemia and preventing complications. 
Lifelong management typically involves dietary restrictions and ongoing medical monitoring.

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