PATHOLOGY MCQ
GENETICS AND DISEASE
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Question
[CLICK ON ANY CHOICE TO KNOW THE RIGHT ANSWER]
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Turner syndrome
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Down syndrome
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phenylketonuria
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cystic fibrosis
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Detailed explanation-1: -Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine (Phe) metabolism resulting from deficiency of phenylalanine hydroxylase (PAH). Most forms of PKU and hyperphenylalaninaemia (HPA) are caused by mutations in the PAH gene on chromosome 12q23.
Detailed explanation-2: -Phenylketonuria (PKU) is a genetically determined metabolic disorder that is highly treatable with diet and supplements. It is an inherited disease in which the body cannot metabolize an amino acid called phenylalanine.
Detailed explanation-3: -Phenylketonuria (commonly known as PKU) is an inherited disorder that increases the levels of a substance called phenylalanine in the blood. Phenylalanine is a building block of proteins (an amino acid ) that is obtained through the diet.