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Sickle-Cell Anaemia

Defect in ami...

Question

Defect in amino acid metabolism may result in.

A

Porphyria

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B

Phenylketonuria

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C

Wilson's disease

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D

Tay Sach's disease

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Solution

The correct option is A Phenylketonuria
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.

So, the correct answer is 'Phenylketonuria'.

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Q. Disorders of amino acid metabolism results in

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 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.

Q. Abnormal fat metabolism results in .......... disease.

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