Oculocutaneous Tyrosinemia
Tyrosinemia type II is an autosomal recessive condition with onset between ages 2 and 4 years, when painful circumscribed calluses develop on the pressure points of the Hand#Human anatomy, palm of the hand and Sole (foot), sole of the foot. Pathophysiology 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 Human eye, eyes, Human skin, skin, and mental development. Symptoms often begin in early childhood and include excessive Tears, tearing, abnormal sensitivity to light (photophobia), eye pain and redness, and painful List of cutaneous conditions#Palmoplantar keratodermas, skin lesions on the palms and soles. About half of individuals with type II tyrosinemia are also mentally disabled. Ty ...
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Tyrosine
-Tyrosine or tyrosine (symbol Tyr or Y) or 4-hydroxyphenylalanine is one of the 20 standard amino acids that are used by cells to synthesize proteins. It is a non-essential amino acid with a polar side group. The word "tyrosine" is from the Greek ''tyrós'', meaning ''cheese'', as it was first discovered in 1846 by German chemist Justus von Liebig in the protein casein from cheese. It is called tyrosyl when referred to as a functional group or side chain. While tyrosine is generally classified as a Hydrophobe, hydrophobic amino acid, it is more hydrophilic than phenylalanine. It is Genetic code, encoded by the Genetic code#Codons, codons UAC and UAU in messenger RNA. Functions Aside from being a proteinogenic amino acid, tyrosine has a special role by virtue of the phenol functionality. It occurs in proteins that are part of signal transduction processes and functions as a receiver of phosphate groups that are transferred by way of protein kinases. Phosphorylation of the hyd ...
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