Why phenylketonuria is considered as autosomal recessive inheritance?
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PKU is inherited in families in anautosomal recessive pattern.Autosomal recessive inheritancemeans that a person has two copies of the gene that is altered. ... Gene alterations (mutations) in the PAH gene cause PKU. Mutations in the PAH gene cause low levels of an enzymecalled phenylalaninehydroxylase.
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Explanation:
Phenylketonuria is a autosomal mendelian disorder .
It is due to recessive gene on chromosome No - 12 .
It accumulate in nerve cells of brain and hence lead to the mental retardation
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