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| Term | Definition |
|---|---|
| What is an inborn error of metabolism? | An inherited enzyme deficiency leading to the disruption of normal bodily metabolism |
| What is PKU? | A genetic disorder that is characterized by an inability of the body to utilize the essential amino acid, phenlalanine. |
| How is PKU diagnosed? | New born screening, prick the heel and blood is drawn to be tested. |
| How is PKU treated? | Substrate deprivation and replacing an enzyme. |