EUROPEAN JOURNAL OF
PHARMACEUTICAL AND MEDICAL RESEARCH

( An ISO 9001:2015 Certified International Journal )

An International Peer Reviewed Journal for Pharmaceutical, Medical & Biological Sciences

An Official Publication of Society for Advance Healthcare Research (Reg. No. : 01/01/01/31674/16)

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 ISSN 2394-3211

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 ICV - 79.57

Abstract

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.


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Google Scholar Indian Science Publications InfoBase Index (In Process) SOCOLAR, China Research Bible, Fuchu, Tokyo. JAPAN International Society for Research activity (ISRA) Scientific Indexing Services (SIS) Polish Scholarly Bibliography Global Impact Factor (GIF) (Under Process) Universal Impact Factor International Scientific Indexing (ISI), UAE Index Copernicus CAS (A Division of American Chemical Society) USA (Under Process) Directory of Open Access Journal (DOAJ, Sweden, in process) UDLedge Science Citation Index CiteFactor Directory Of Research Journal Indexing (DRJI) Indian citation Index (ICI) Journal Index (JI, Under Process) Directory of abstract indexing for Journals (DAIJ) Open Access Journals (Under Process) Impact Factor Services For International Journals (IFSIJ) Cosmos Impact Factor Jour Informatics (Under Process) Eurasian Scientific Journal Index (ESJI) International Innovative Journal Impact Factor (IIJIF) Science Library Index, Dubai, United Arab Emirates Pubmed Database [NLM ID: 101669306] (Under Process) IP Indexing (IP Value 2.40) Web of Science Group (Under Process) Directory of Research Journals Indexing Scholar Article Journal Index (SAJI) International Scientific Indexing ( ISI ) Scope Database Academia