Mechanism of phenylketonuria
Written by Hu Qi Feng
Pediatrics
Updated on September 03, 2024
00:00
00:00
Phenylketonuria is characterized by reduced activity of phenylalanine hydroxylase, which fails to convert phenylalanine to tyrosine, causing extremely elevated levels of phenylalanine in the blood, cerebrospinal fluid, and tissues. This leads to the production of large amounts of phenylpyruvic acid, phenylacetic acid, phenyllactic acid, and p-hydroxyphenylacetic acid via alternative pathways. High concentrations of phenylalanine and its metabolic products can cause brain damage, which manifests as developmental intellectual disabilities, changes in skin and hair pigmentation, and a mousy urine odor, all part of a clinical syndrome.
Trending Health Topics
Get the latest health & wellness news daily right to your inbox.
By subscribing, you agree to the Privacy Policy.
Other Voices
1min 1sec
How is phenylketonuria diagnosed?
1min 16sec