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Sickle-Cell Anaemia

Phenylketonur...

Question

Phenylketonuria (PKU) is inherited disease that is characterised by

A

Elimination of gentistic acid in urine

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B

Increased occurrence of phenylalanine in blood and tissues

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C

Elimination of sugar in urine

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D

Decrease in phenylalanine in blood and tissues

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Solution

The correct option is C Increased occurrence of phenylalanine in blood and tissues
Phenylketonuria (PKU) is an autosomal recessive metabolic genetic disorder characterized by a deficiency in the hepatic enzyme phenylalanine hydroxylase (PAH). This enzyme is necessary to metabolize the amino acid phenylalanine ('Phe') to the amino acid tyrosine. When PAH is deficient, phenylalanine accumulates and is converted into phenylpyruvate (also known as phenylketone), which is detected in the urine.

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Q. Assertion :Phenylketonuria is a recessive hereditary disease caused by body's failure to oxidize an amino acid phenylalanine to tyrosine, because of a defective enzyme. Reason: It results in the presence of phenylalanine acid in urine.

Q. Assertion :Phenylketonuria is a recessive hereditary disease caused by failure of the body to oxidise an amino acid phenylalanine to tyrosine because of defective enzyme. Reason: It results in presence of phenylalanine in urine.

Q. Assertion :Phenylketonuria and sickle-cell anaemia are autosomal recessive traits disorder.
Reason: In phenylketonuria due to lacks of phenylalanine hydroxylase AA-tyrosine is converted into phenylalanine (AA) while in sickle-cell anaemia valine is replaced by glutamic acid in

β

Q. Assertion: A patient with phenylketonuria has skin pigmentation, mental retardation, and reduction in hair

Reason: In phenylketonuria, phenylalanine is converted into tyrosine which leads to absence of phenylalanine in the body

Q. Assertion: Phenylketonuria is a recessive hereditary disease caused by the body’s failure to oxidise an amino acid phenylalanine to tyrosine, because of a defective enzyme.
Reason: It results in the presence of phenylpyruvate in the urine.

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