Genetic disorder preventing phenylalanine metabolism, an essential amino acid.
Genetic disorder characterized by a deficiency of the enzyme phenylalanine hydroxylase, leading to accumulation of phenylalanine and its toxic metabolites. Systematically detected at birth in developed countries.
Phenylketonuria (PKU) results from mutations of the PAH gene coding for the enzyme necessary to convert phenylalanine to tyrosine. Without this functional enzyme, phenylalanine accumulates in the blood and brain, causing severe neurological damage including intellectual disability, eczema, and characteristic body odor. Early detection and phenylalanine-restricted diet during childhood and adolescence, or lifetime, completely prevent these complications.
Regulates phenylalanine metabolism, an essential amino acid involved in protein synthesis.
Follow a phenylalanine-restricted diet based on a specialized nutritionist's recommendations. Use medical formulas specifically designed for PKU patients. Regularly consult to ensure nutritional balance and verify phenylalanine levels.
Early detection and proper nutritional management of phenylketonuria completely prevent severe neurological complications.
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