Phenylketonuria (PKU) What Is This Medical Condition?

Phenylketonuria is an inborn error of metabolism, and the condition is also known as PKU short. Before continuing, please remember that the information provided on this page are not intended to be used in place of professional medical advice or how this information.

PKU is an autosomal recessive disease. This means that there must be two copies of the abnormal gene of the disease to develop. The condition is characterized by a lack of normal levels of phenylalanine hydroxylase, which is a liver enzyme. Also known as PAHs for short, this enzyme is necessary for the body metabolizes phenylalanine to tyrosine. When there is such a deficiency, phenylalanine (Phe) accumulates, and eventually it became phenylpyruvate. This product can not be detected in the urine of the patient.

Treatment usually involves having a diet low in phenylalanine. The controls in cognitive development are also that issues such as brain damage and mental retardation can occur if the condition is untreated. Complete protein can also be done by sticking with the diet low in phenylalanine.