The Ivers Fam

My Girls Genetic Disorder Tyrosinemia Type 2

Type II tyrosinemia is caused by a deficiency of the enzyme tyrosine aminotransferase encoded by the gene TAT. Tyrosine aminotransferase is the first in a series of five enzymes that converts tyrosine to smaller molecules, which are excreted by the kidneys or used in reactions that produce energy. This form of the disorder can affect the eyes, skin, and mental development. Symptoms often begin in early childhood and include excessive tearing, abnormal sensitivity to light (photophobia), eye pain and redness, and painful skin lesions on the palms and soles. About half of individuals with type II tyrosinemia are also mentally retarded. Type II tyrosinemia occurs in fewer than 1 in 250,000 individuals.
Dr Longo informed us that there are less that 100 cases of tyrosinemia type 2 reported worldwide. I have four of them.. I am so thankful that Presley was diagnosed when she was (at 13months) and that Sam, Dylann and Hadley were diagnosed at birth. They are on a low-protein diet and are doing great!!

Thursday, December 6, 2007

1 comment: