Objectives: Inherited Metabolic Disorders

For each of the following diseases

• Tay-Sachs disease
• Niemann-Pick disease type A
• Metachromatic Leukodystrophy
• Krabbe Leukodystrophy

the student should be able to:

1. Classify each as a neuronal storage disease (primarily gray matter) or a leukodystrophy (primarily white matter)

2. Describe clinical presentation, course of the disease, criteria for diagnosis, and pathological changes