GENERAL HISTOLOGY

EXCRETORY SYSTEM

KIDNEY

Question [CLICK ON ANY CHOICE TO KNOW THE RIGHT ANSWER]
PKU is ____
A
A bacterial disease resulting in inability to convert phenylalanine into other amino acids.
B
A genetic disease resulting in inability to produce phenylalanine.
C
When a healthy person excretes excess phenylalanine.
D
A genetic disease resulting in inability to convert phenylalanine into other amino acids.
Explanation: 

Detailed explanation-1: -Phenylketonuria (fen-ul-key-toe-NU-ree-uh), also called PKU, is a rare inherited disorder that causes an amino acid called phenylalanine to build up in the body. PKU is caused by a change in the phenylalanine hydroxylase (PAH) gene. This gene helps create the enzyme needed to break down phenylalanine.

Detailed explanation-2: -How PKU is inherited. The genetic cause (mutation) responsible for PKU is passed on by the parents, who are usually carriers and do not have any symptoms of the condition themselves. The way this mutation is passed on is known as autosomal recessive inheritance.

Detailed explanation-3: -Babies with PKU are missing an enzyme called phenylalanine hydroxylase. It is needed to break down the essential amino acid phenylalanine. Phenylalanine is found in foods that contain protein.

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