2. Galactosemia (disorder of carbohydrate metabolism)

a) Biochemical defect: deficiency of galactose-1-phosphate uridyl transferase; accumulation of galactose-1-phosphate; galactosuria and presumed hypergalactosemia


b) Clinical expression: mental retardation


c) Therapy: galactose-free diet


d) Pathological Characteristics:


-no lysosomal storage in neurons


-non-specific changes with neuronal loss and gliosis

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