Inborn errors of metabolism

• Leukodystrophies

  • Disturbances of myelin metabolism that mostly affect white matter and grossly look similar

  • Metachromatic leukodystrophy

    • AR lack of argyl-sulfatase A, leading to accumulation of galactosyl sulfatides

    • PAS (+) material accumulates in macrophages or peripheral tissues

    • Not demyelinating, because the nerves are never really Myelinated at all

  • Krabbe’s disease

    • Sometimes called globoid cell leukodystrophy because one can see histiocytes that look like those of PSP (these are usually larger and multinucleated)

    • AR deficiency of galactosidase leads to production of toxic metabolites that demyelinate

    • Within first 6 months kids show rigidity, instability, and decreased alertness

  • Adrenoleukodystrophy

    • X-linked recessive d/o characterized by the accumulation of very long-chain fatty acid esters of C

    • 2 forms

      • Juvenile

        • Classic form

        • Early onset in 1^st decade of life with rapidly progressive demyelination and adrenal insufficiency (this is what usually kills these kids)

      • Adult form – milder and more slowly progressive

Category: Pathology Notes