Niemann-Pick Disease Types A & B: Causes, Symptoms, and Treatment скачать в хорошем качестве

Niemann-Pick Disease Types A & B: Causes, Symptoms, and Treatment

Niemann-Pick Disease Types A & B, also known as Acid Sphingomyelinase Deficiency (ASMD), is a rare genetic disorder caused by a deficiency of the enzyme acid sphingomyelinase. This leads to the buildup of sphingomyelin in the body's tissues, resulting in a wide range of symptoms. Type A is a severe neurodegenerative condition that typically presents in infancy, while Type B is a milder form with longer survival into adulthood. In 2022, the FDA approved olipudase alfa (Xenpozyme) to treat non-CNS symptoms of ASMD. Learn more about symptoms, causes, and available treatment options. This video on Niemann-Pick Disease Types A & B is brought to you by NORD (National Organization for Rare Disorders). Read the full report here: https://rarediseases.org/rare-disease... #NiemannPickDisease #ASMD #RareDisease #GeneticDisorders #NiemannPickTypeA #NiemannPickTypeB #HealthEducation