Signs & Symptoms

Symptoms of Hereditary Tyrosinemia Type 1 in the chronic form usually begin after 2 months.

In some cases, the first symptom may be difficulty in gaining weight, vomiting, and diarrhea attacks. Over time, symptoms related to the liver, kidney, and nervous system may develop.

Signs & Symptoms

The signs of the acute form of tyrosinemia type 1 in newborns include the following:
• Diarrhea and bloody stools
• Vomiting
• Delayed weight gain
• Excessive sleep
• Irritability
Liver-related symptoms are more common.
• Enlarged liver (hepatomegaly)
• Jaundice
• Easy and frequent bruising/bleeding
• Swelling in the abdomen and legs
• Kidney failure
• Vitamin D-resistant rickets (soft and weak bones)
• Delayed walking
Some infants experience episodes with the following symptoms:
• Pain and weakness, especially in the legs
• Respiratory problems
• Rapid heartbeat
• Seizures
• Sometimes a coma leading to death