Skip to main content
. Author manuscript; available in PMC: 2016 Apr 1.
Published in final edited form as: Mol Genet Metab. 2014 Dec 29;114(4):501–515. doi: 10.1016/j.ymgme.2014.12.434

Table 4.

Treatable leukodystrophies.*.

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.