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Prader-Willi Syndrome: A Complex Genetic Disorder

Introduction: Prader-Willi Syndrome (PWS) is a complex genetic disorder characterized by a wide range of physical, cognitive, and behavioral challenges. It was first described in 1956 by Swiss doctors Andrea Prader, Heinrich Willi, and Alexis Labhart. Causes and Genetic Basis of Prader-Willi Syndrome: PWS is caused by the abnormal function of specific genes located on […]
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Phenylketonuria (PKU): Symptoms, Diagnosis, and Treatment

Introduction: Phenylketonuria (PKU) is a rare genetic disorder that affects how the body processes an amino acid called phenylalanine. PKU is a rare disorder, affecting only about 1 in 10,000 to 15,000 newborns in the United States. However, all newborns must be screened for PKU shortly after birth, as early diagnosis and treatment can prevent […]
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