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Mention the causes and effects of phenyl...

Mention the causes and effects of phenylketonuria.

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• Inborn error of phenylalanine metabolism due to autosome linked recessive gene on chromosome 12.
• Recessive gene pp fails to produce an enzyme phenyl alanine hydroxylase.
• No break-down of phenylalanine into tyrosine and its derivatives accumulates in the blood and CSF
• Mental retardation, light skin and hair and phenylalanine and its derivatives excreted through urine.
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