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

[@intro2123_]

Wonderful

[@tnazar9991]

hi sir how are you? in my medical college im fear of studying biochemistry but you made it easy with your great explanation thank you so much sir im your limra student

[@noureenzafar7369]

Thanks u sir

[@Medvik141]

I am pharmacy students thanks a lot sir "bawaaaaaal"

[@doctorbhanuprakash]

All the best.

[@shehnazmalik8809]

U r amazing sir

[@doctorbhanuprakash]

Thanks a lot

[@khkhmoh4651]

Is it autosomal recessive?
Thank you 🌷

[@DrPriyanshJain]

Auto rece

[@jahanvipatel5269]

Sir but maternal enzymes are not working on mom before getting pregnant...then how it will work for...baby?

[@lakshmiprasadyadav4458]

Phenyl ketourea is an autosomal recessive disorder so if the mother is heterozygous ( carrier) then mother will continue to produce enzymes, and in case the husband is diseased or carrier then the foetus may be homozygous and hence diseased but it may not be diagnosed in foetal stage due to mothers hormone crossing olacenta and reaching foetus.
This is what I can think.
I'm a neet aspirant so I'm not sure 😅✌😅

[@jahanvipatel5269]

@@lakshmiprasadyadav4458 tysm sir 💖 it was great explanation actually m preparing for neet exam but I have always faced doubts in genetics...but this video and ur doubt explanation really helped me...alot...😇🙏🏻🌸