Tyrosinemia type II
Tyrosinemia type II
Tyrosinemia type II (pronounced: tie-row-sin-ee-mee-uh type two), also known as Richner-Hanhart syndrome, is a rare genetic disorder characterized by elevated blood levels of 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 II" indicates it is the second of three identified types of Tyrosinemia. The syndrome is named after the Swiss pediatricians who first described it, Hans Richner and André Hanhart.
Symptoms
The symptoms of Tyrosinemia type II often become apparent in early childhood and may include painful skin lesions on the palms and soles, eye abnormalities such as corneal ulcers and photophobia (light sensitivity), and intellectual disability.
Causes
Tyrosinemia type II is caused by mutations in the TAT gene, which provides instructions for producing an enzyme called tyrosine aminotransferase. This enzyme is responsible for the first step in the breakdown of tyrosine. Mutations in the TAT gene disrupt the function of this enzyme, leading to an accumulation of tyrosine in the body.
Diagnosis
Diagnosis of Tyrosinemia type II is typically made through a combination of clinical examination, patient history, and laboratory testing. The most definitive diagnostic test is a genetic test to identify mutations in the TAT gene.
Treatment
Treatment for Tyrosinemia type II primarily involves a diet low in tyrosine and phenylalanine, another amino acid that the body converts into tyrosine. In some cases, medication may be used to help manage symptoms.
Related Terms
External links
- Medical encyclopedia article on Tyrosinemia type II
- Wikipedia's article - Tyrosinemia type II
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