Tyrosinemia type I
Tyrosinemia type I
Tyrosinemia type I (pronounced: tie-row-sin-ee-mee-uh type one), also known as Hepatorenal Tyrosinemia or Fumarylacetoacetase deficiency, is a rare genetic disorder characterized by disruptions in the multistep process that breaks down the amino acid tyrosine, a building block of most proteins.
Etymology
The term "Tyrosinemia" is derived from the Greek words "tyros" meaning cheese and "haima" meaning blood, referring to the elevated levels of tyrosine in the blood. The term "type I" indicates the first variant of the disorder to be described scientifically.
Symptoms
Symptoms of Tyrosinemia type I usually appear in the first few months of life and may include failure to gain weight and grow at the expected rate (failure to thrive), diarrhea, vomiting, yellowing of the skin and whites of the eyes (jaundice), cabbage-like odor, and increased tendency to bleed (particularly nosebleeds). Tyrosinemia type I may also lead to more serious medical issues such as liver and kidney disease, problems affecting the nervous system, and an increased risk of liver cancer.
Causes
Tyrosinemia type I is caused by mutations in the FAH gene. This gene provides instructions for making an enzyme called fumarylacetoacetase, which is responsible for the final step in the breakdown of tyrosine. Mutations in the FAH gene disrupt the function of this enzyme, leading to a buildup of tyrosine and its byproducts in the body.
Diagnosis
Diagnosis of Tyrosinemia type I is based on the symptoms, laboratory testing showing increased tyrosine and its byproducts in blood and urine, and confirmed by genetic testing showing mutations in the FAH gene.
Treatment
Treatment for Tyrosinemia type I typically involves a medication called nitisinone and a diet low in tyrosine and phenylalanine. In severe cases, a liver transplant may be necessary.
Related Terms
External links
- Medical encyclopedia article on Tyrosinemia type I
- Wikipedia's article - Tyrosinemia type I
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