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Disease or Condition — Hormonal, Nutritional, Metabolic, and Immune Disorders:
4-hydroxyphenylpyruvate dioxygenase deficiency

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Description

Type III tyrosinemia is a rare inherited metabolic disorder caused by a deficiency of the enzyme 4-hydroxyphenylpyruvate dioxygenase (HPD). This enzyme is responsible for breaking down the amino acid tyrosine, which is found in many foods. Without this enzyme, tyrosine builds up in the body and can cause a variety of health problems. Symptoms of type III tyrosinemia include poor growth, liver and kidney problems, and skin rashes. Treatment typically involves a low-tyrosine diet and medications to help reduce the amount of tyrosine in the body.

Synonyms
  • 4-hydroxyphenylpyruvic acid oxidase deficiency
  • Type III tyrosinemia
Basic Lab Tests (measurements)

Detailed Disease and Condition Information (use the search buttons below to find details on these topics)
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