Phenylketonuria

Phenylketonuria is an autosomal recessive condition which is caused by mutation in PAH gene leading to decreased or absence of phenylalanine hydroxylase enzyme. The elevated phenylalanine in phenylketonuria causes severe damage to neurons leading to mental retardation. Elevated phenylalanine derived phenylketones in the blood and urine give rise to characteristic musty or mousy odor to body fluids.
Video link for Guthrie bacterial inhibition assay:
• Guthrie Test (Screenin...
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[@arshiaghazal1266]

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[@realS_ogora]

Great video and explanation......as always

[@DrMungli]

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[@errdftyy]

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[@DrMungli]

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[@siddarthv1008]

Dihydropteridine reductase - NADPH

[@zeemithirani8786]

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[@DrMungli]

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[@DrMungli]

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[@praveenkumar-jp8dl]

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[@DrMungli]

+praveen kumar : sure in coming days I will try to make vodeo on that topic.