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Name the metabolic defect in phenylketonuria. What is the urinary manifestation (odor)?

Name the metabolic defect in phenylketonuria. What is the urinary manifestation (odor)?

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Phenylketonuria is a genetic disorder it is a heriditary. It is due to the mutations in PAH gene results in the low levels of phenylalanine hydroxylase enzyme it is found in the chromosome 12. In the body the phenylalanine hydroxylase converts the amino acid phenylalanine to tyrosine another amino acid. So the body cant breakdown the phenylalanine so it buildup the body. Untreated phenylketonuria causes brain damage, intellectual disabilities etc.

Infection in the urinary tract causes foul smell in the urine. Dehydration causes strong smell of ammonia in the urine because of the more concentrated urine. Urinary manifestions occurs due to the urinary tract infections. Symptoms of urinary manifestations is the burning feeling when u pee, feeling tired, chill or fever, pain in the lower abdomen etc

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