Phenylketonuria

Phenylketonuria (PKU) is a genetic disease caused by phenylalanine hydroxylase (PAH) deficiency or decreased activity in the liver, resulting in phenylalanine metabolism disorders. It is more common in hereditary amino acid metabolism deficiency diseases, and the inheritance mode is autosomal recessive inheritance. The clinical manifestations are uneven, and the main clinical features are mental retardation, neuropsychiatric symptoms, eczema, skin scratch signs, loss of pigment, and rat odor in urine, etc., and abnormal EEG. If early diagnosis and early treatment can be obtained, the aforementioned clinical manifestations may not occur, intelligence is normal, and EEG abnormalities can also be recovered.

Was this article helpful?

The material in this site is intended to be of general informational use and is not intended to constitute medical advice, probable diagnosis, or recommended treatments.