Give scientific reasons : The product of phenylalanine catabolism excreted in the urine in phenylketonuria.
Give scientific reasons : The product of phenylalanine catabolism excreted in the urine in phenylketonuria.
It is a rare disease in which individual lacks an enzyme called Phenylalanine hydroxylase. Which is needed to breakdown an essential amino acid phenylalanine into tyrosine in liver. This phenylalanine is accumulated and gets converted into phenylpyruvic acid and other derivatives
leading to mental retardation (due to accumulation in brain). These are also excreted through urine because of its poor absorption by kidney.
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Describe Mendelian Disorder.
Describe Mendelian Disorder.
Following pedigree chart shows
Following pedigree chart shows
Which disease is genetically linked
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