Metachromatic leukodystrophy (MLD) is a lysosomal storage diseases, which are progressive, inherited, and neurodegenerative disorders (MLD included).
□ 4
types of MLD occur with varying ages of onset and courses (i.e., 1. Late
infantile, 2. Early juvenile, 3. Late juvenile, 4. Adult).
□ All
forms of MLD involve a progressive deterioration of motor & neurocognitive
function.
□The typing is somewhat arbitrary, as the types overlap, and some cases do
not fall neatly within a single type. MLD actually & scribes a continuum of
clinical severity. The presence of white matter abnormalities on brain images
is characteristic.
In patients, the inability to degrade sulfated glycolipids, especially the galactosyl-3-sulfate ceramides characterizes MLD. A deficiency in the lysosomal enzyme sulfatide sulfatase (arylsulfatase A) is present in MLD
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