phenylketonuria (pku)

What Are the Cellular and Molecular Consequences?

The accumulation of phenylalanine and its metabolites can interfere with multiple cellular processes:
1. Enzyme Inhibition: High levels of phenylalanine can inhibit other enzymes involved in amino acid metabolism, leading to a disturbance in the metabolic balance.
2. Oxidative Stress: Excess phenylalanine and its byproducts generate free radicals, causing oxidative damage to cellular components like lipids, proteins, and DNA.
3. Neurotoxicity: Phenylalanine can cross the blood-brain barrier and affect brain cells, leading to impaired synaptic transmission and neuronal damage.

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