PHENYLKETONURIA: SYMPTOMS, TREATMENT AND HOW IS THE DIAGNOSIS - GASTROINTESTINAL DISORDERS

What is phenylketonuria and how is it treated?



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Phenylketonuria is a rare genetic disease characterized by the presence of a mutation responsible for altering the function of an enzyme in the body responsible for the conversion of the amino acid phenylalanine to tyrosine, which leads to the accumulation of phenylalanine in the blood and which at high concentrations is toxic to the organism, which can cause intellectual disability and convulsions, for example