Phenyl Ketonuria ( genetic defects in amino-acid metabolism)
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- Опубліковано 14 жов 2024
- Phenylketonuria (PKU) is an inborn error of metabolism that results in decreased metabolism of the amino acid phenylalanine. Untreated, PKU can lead to intellectual disability, seizures, behavioral problems, and mental disorders. It may also result in a musty smell and lighter skin.
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