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Question
Phenylketonuria is a human disease. A person affected by this disease suffers from
Phenylketonuria is a human disease. A person affected by this disease suffers from
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Solution
The correct option is D Mental idiocy
Phenylketonuria (PKU) is an inborn error of metabolism involving impaired metabolism of phenylalanine, one of the amino acids. Phenylketonuria is caused by absent phenylalanine hydroxylase enzyme activity. The disease may present clinically with seizures, hypopigmentation (excessively fair hair and skin), and a musty odour to the baby's sweat and urine (due to phenylacetate, a carboxylic acid produced by the oxidation of phenylketone). Untreated children fail to attain early developmental milestones, develop microcephaly and demonstrate progressive impairment of cerebral function. PKU may also cause mental retardation if they are not found and treated early.
Phenylketonuria (PKU) is an inborn error of metabolism involving impaired metabolism of phenylalanine, one of the amino acids. Phenylketonuria is caused by absent phenylalanine hydroxylase enzyme activity. The disease may present clinically with seizures, hypopigmentation (excessively fair hair and skin), and a musty odour to the baby's sweat and urine (due to phenylacetate, a carboxylic acid produced by the oxidation of phenylketone). Untreated children fail to attain early developmental milestones, develop microcephaly and demonstrate progressive impairment of cerebral function. PKU may also cause mental retardation if they are not found and treated early.
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