Which condition is associated with lysosomal accumulation of sulfatides?

Prepare for USMLE Step 1 Pathology Exam with comprehensive quizzes, flashcards, and detailed explanations. Enhance your understanding and be exam-ready!

The condition associated with lysosomal accumulation of sulfatides is metachromatic leukodystrophy. This disorder is due to a deficiency of the enzyme arylsulfatase A, which is involved in the degradation of sulfatides. When this enzyme is lacking, sulfatides accumulate in the nervous system and other tissues, leading to demyelination and neurological deficits.

In metachromatic leukodystrophy, the accumulation of sulfatides disrupts normal cellular function and contributes to the progressive neurodegeneration seen in affected individuals. Symptoms often include motor and cognitive decline, and the disorder typically presents in childhood or early adulthood, depending on the specific form of the disease.

The other mentioned conditions, while also genetic lysosomal storage disorders, are associated with different types of substrates. Tay-Sachs disease involves the accumulation of GM2 gangliosides due to a hexosaminidase A deficiency. Fabry's disease leads to the accumulation of globotriaosylceramide because of a deficiency in the enzyme alpha-galactosidase A. Niemann-Pick disease is characterized by the accumulation of sphingomyelin owing to a deficiency in sphingomyelinase. Each of these conditions has distinct pathophysiology

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