What is Fabry Disease classified as?

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

Fabry Disease is classified as a rare genetic lysosomal storage disease because it is caused by a mutation in the GLA gene that impairs the enzyme alpha-galactosidase A. This enzyme is essential for the breakdown of certain lipids, specifically globotriaosylceramide (Gb3). When the enzyme is deficient or absent, Gb3 accumulates in the lysosomes of various cells, leading to a range of symptoms including pain, gastrointestinal problems, and skin lesions.

The classification of Fabry Disease as a lysosomal storage disorder is significant as it helps inform the understanding of its pathology, potential treatments, and the manner in which it affects the body's systems. Other conditions listed, such as bacterial infections, viral diseases, and types of cancer, have different underlying mechanisms and implications for diagnosis and treatment, which do not apply to Fabry Disease.

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