Niemann–Pick disease and Canavan disease. Those illnesses, like Tay-Sachs, will only manifest if both parents carry the same defective gene. Disorders arising from dominant gene mutations ...
and Canavan disease, both of which result from mutations in enzymes in the sulphatide pathway. There are no cures for these diseases, which are typically treated with enzyme-replacement therapy ...
The distribution of diagnosed leukoencephalopathies was as follows: metachromatic leukodystrophy 62, X-linked adrenoleukodystrophy 60, Krabbe disease 39, Canavan disease 16, Alexander disease 13 ...