A person is suffering from the disease phenyl | vedclass

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(B) Phenylketonuria $(PKU)$ is an inborn error of metabolism inherited as an autosomal recessive trait. It is caused by a mutation in the gene that co

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Phenylalanine hydroxylase

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(B) Phenylketonuria $(PKU)$ is an inborn error of metabolism inherited as an autosomal recessive trait. It is caused by a mutation in the gene that codes for the liver enzyme $Phenylalanine$ hydroxylase. This enzyme is responsible for converting the amino acid $Phenylalanine$ into $Tyrosine$. Due to the deficiency of this enzyme, $Phenylalanine$ accumulates in the body and is converted into phenylpyruvic acid and other derivatives, which leads to mental retardation and other symptoms.

$A$ person is suffering from the disease phenylketonuria, which is an autosomal recessive disease. Which of these is lacking in the person?

Similar Questions

Pick out the correct statements.
$(1)$ Haemophilia is a sex-linked recessive disease.
$(2)$ Down's syndrome is due to aneuploidy.
$(3)$ Phenylketonuria is an autosomal recessive gene disorder.
$(4)$ Sickle cell anaemia is an $X$-linked recessive gene disorder.

Which of the following is not an autosomal dominant disorder?

Which of the following is associated with sex-linked inheritance?

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