TYROSINEMIA TYPE 1; FAH DEFICIENCY A RARE GENETIC DISORDER, ITS ETIOLOGY, CLINICAL STUDIES AND DISEASE MANAGEMENT

Dr. Sikander Ali* and Attiqa Khaliq

ABSTRACT

Tyrosine, an aromatic amino acid that is derivative obtained by hydrolysis of alimentary protein, or from the hydroxylation of phenylalanine, and plays essential role for the synthesis of catecholamines, melanogenesis and thyroid hormones. Many genetic and acquired liver disorders results due to reduced degradation of tyrosine. Hypertyrosinemia in humans is termed when tyrosine in blood elevated by >200 μM. The case of hypertyrosinemia in live births is reported to be 1 in 100,000. Both sexes have equal chances for tyrosinemia type I as it is an autosomal recessive disorder. The defect results in aberrations in gene expression, enzyme activity inhibition, apoptosis and instability of chromosomes. Tandem mass spectrophotometry for screening of TT1 in new borns. Tandem mass spectrometry is a precise technique which tells about the markers of disease in blood spot specimens of newborns. Inhibitor nitisinone and dietary therapy (diet without tyrosine and phenylalanine) is used to prevent liver dysfunction in type I tyrosinemia.

Keywords: Tyrosine, Tandem mass spectrophotometry for screening of TT1 in new borns.