Tag: nutrition management

  • Phenylketonuria (PKU)

    Phenylketonuria (PKU): Definition and Description of Phenylketonuria (PKU): Phenylketonuria (PKU) is a rare genetic disorder that affects the metabolism of phenylalanine, an amino acid found in many protein-containing foods. PKU is caused by a deficiency in the enzyme phenylalanine hydroxylase (PAH), which is essential for converting phenylalanine into tyrosine, another amino acid. In individuals with…

  • Labhart-Willi Syndrome

    Labhart-Willi Syndrome Definition and Description of Labhart-Willi Syndrome Labhart-Willi Syndrome (LWS) is a rare genetic disorder that is characterized by a range of symptoms affecting physical and mental development. It primarily involves growth abnormalities and hyperphagia, leading to obesity. Individuals with LWS may also exhibit distinctive facial features and cognitive impairments. This syndrome is linked…