PATHOLOGY

Detailed explanation-1: -Phenylketonuria (commonly known as PKU) is an inherited disorder that increases the levels of a substance called phenylalanine in the blood. Phenylalanine is a protein building block (an amino acid ) that is obtained from eating certain foods (such as meat, eggs, nuts, and milk) and in some artificial sweeteners.

Detailed explanation-2: -Phenylketonuria (PKU) is a rare but potentially serious inherited disorder. Our bodies break down the protein in foods, such as meat and fish, into amino acids, which are the “building blocks” of protein.

Detailed explanation-3: -In a person with PKU, a change in the phenylalanine hydroxylase (PAH) gene causes a lack of or reduced amount of the enzyme that’s needed to process phenylalanine, an amino acid.

Detailed explanation-4: -Phenylketonuria (PKU) is a type of amino acid metabolism disorder. It is inherited. If you have it, your body can’t process phenylalanine (Phe). Phe is an amino acid, a building block of proteins.

Detailed explanation-5: -Phenylketonuria (PKU) is a genetic condition that causes elevated levels of a substance called phenylalanine to build up in your body. Phenylalanine is found in the body as part of normal biochemical pathways, but problems arise when levels are persistently higher than normal. Phenylalanine is an amino acid.