Altered circadian function in a mouse model of phenylketonuria
Junfei Cao, Sjoerd van Hasselt, Cecile Bruil, Wendy Hegge, Jorick te Velde, Eddy Van der Zee, Robbert Havekes, Peter Meerlo · FENS Forum 2024
Phenylketonuria (PKU) is a rare, metabolic disease caused by a mutation in the gene for the enzyme phenylalanine hydroxylase (PAH). The resulting enzyme defect reduces the transformation of phenylalanine (Phe) to tyrosine and causes the accumulation of Phe in blood and brain. This elevated Phe concentration obstructs the entry of essential amino acids, which serve as neurotransmitter precursors in the brain, affecting proper brain function. It has been observed that PKU is also associated with alterations in circadian rhythms and sleep patterns. However, available data are limited.The Pahenu2
ePoster · Neuroscience