Topic: sleep patterns

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

Neurofibromatosis type 1 (NF1) is a monogenic but highly multisymptomatic disorder that affects 1:2500 individuals and results from mutations in the Nf1 tumor suppressor gene. Nf1 encodes Neurofibromin (Nf1), a large multifunctional protein, preferentially expressed in the central and peripheral nervous system, crucial for regulating multiple signaling pathways. Although typically considered a tumor predisposition syndrome, NF1 is also associated with broad cognitive and behavioral presentations, including impaired learning, attention deficit hyperactivity disorder, autism spectrum disorder, s