Inborn errors of metabolism

on 28.1.09 with 0 comments

  • 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 1st 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



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