Table 4.
Disease | Screening test | Treatment |
---|---|---|
Adrenoleukodystrophy (cerebral) | VLCFA | Bone marrow transplantation in early stages of the disease. |
Cerebrotendinous Xanthomatosis | Cholestanol | Chenodeoxycholic acid; inhibitors of HMG-CoA reductase. |
Krabbe | Galactocerebrosidase activity assay | Bone marrow transplantation in pre-symptomatic and early symptomatic patients, though the benefit of this is still undergoing testing. |
Metachromatic leukodystrophy | Arylsulfatase A activity assay | Bone marrow transplantation in pre-symptomatic and early symptomatic patients though the benefit of this is still undergoing testing. |
Note, this does not include the many genetic leukoencephalopathies, including but not limited to amino acidemias (MSUD, PKU, etc.), organic acidurias (MMA, IVA, PA, etc.), Niemann-Pick type C, biotinidase deficiency, Wilson's disease, etc.