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Phenylalanine metabolism and Overview of phenylketonuria : Medical Biochemistry : Dr Priyansh jain

📌 𝐅𝐨𝐥𝐥𝐨𝐰 𝐨𝐧 𝐈𝐧𝐬𝐭𝐚𝐠𝐫𝐚𝐦:-   / drgbhanuprakash   Phenylalanine metabolism and Overview of phenylketonuria : Medical Biochemistry : Dr Priyansh jain Phenylalanine is a primary amino acid that is abundant in dietary protein. It's main metabolic pathway yields the amino acid Tyrosine, which is involved in the production of Melanin pigments. Defects of enzymes responsbile for interconversion of metabolites in the pathway are the cause of three well-studied, single-gene Inborn Errors of Metabolism: Phenylketonuria (PKU), Albinism (Melanin deficiency), and Alkaptonuria (excess HA). Overview of phenylketonuria ---------------------------------------------- Hepatic phenylalanine hydroxylase (PAH) catalyzes the conversion of phenylalanine to tyrosine. Deficiency of PAH results in elevated blood and urine concentrations of phenylalanine and its metabolites, phenylacetate and phenyllactate. Tyrosine concentration is normal or nearly normal. Most cases of PKU are caused by PAH deficiency, which is an autosomal-recessive disorder. The gene encoding PAH has been mapped to human chromosome 12q24.1. More than 1000 mutations have been identified. The mainstay of therapy in PKU remains dietary restriction of phenylalanine, although enzyme therapy using pegvaliase is approved for adult patients with PKU. Dietary therapy requires the use of medical foods including phenylalanine-free protein substitutes. #phenylketonuria #phenylananine #medicalbiochemistry #biochemistry #usmle #usmlestep1 #usmlevideos #mbbs #neetpg #nationalexittest #usmlepreparation #fmge #mbbslectures #nationalexitexam