Скачать или смотреть Tyrosinemia Type II Caused by Deficiency Of Tyrosine aminotransferase Or Richner Hanhart syndrome

Richner-Hanhart Syndrome, also known as Tyrosinemia Type II, is a rare autosomal recessive genetic disorder caused by a deficiency of the enzyme tyrosine aminotransferase. This enzyme is essential for breaking down the amino acid tyrosine. When it is deficient, tyrosine accumulates in the body, leading to various symptoms.

Key features of Richner-Hanhart Syndrome include:

Ocular issues: Photophobia (light sensitivity), excessive tearing, and corneal ulcers that can lead to scarring.

Skin abnormalities: Painful, thickened, and hyperkeratotic plaques on the palms and soles.

Neurological symptoms: Intellectual disabilities and developmental delays in some cases.

This condition is typically diagnosed through elevated tyrosine levels in the blood and urine, along with genetic testing. Treatment involves a low-tyrosine diet to manage symptoms and prevent complications

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