What is Niemann-Pick Disease?

Prepare for the ASCP Technologist in Chemistry (C) Exam. Use flashcards and multiple choice questions, each with hints and explanations. Be exam ready!

Niemann-Pick Disease is classified as a group of inherited metabolic disorders, which is why the chosen answer is correct. This disease primarily affects the metabolism of lipids, specifically sphingomyelin, due to a deficiency of enzymes that are essential for lipid breakdown. There are several types of Niemann-Pick Disease, each related to different genetic mutations that lead to the accumulation of sphingomyelin in various tissues, which in turn causes a range of symptoms, including neurodegenerative issues, organ dysfunction, and developmental delays.

Recognizing Niemann-Pick Disease as a metabolic disorder highlights its genetic basis and the biochemical disturbances that characterize the disease. This focus on genetics and metabolism differentiates it from conditions like vitamin deficiencies, protein synthesis disorders, or autoimmune diseases, which are rooted in different mechanisms and have different implications for treatment and management.

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