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What is Leukodystrophy?

Leukodystrophy is a disease of white matter which is caused by dysmyelination, i.e. abnormal formation or increased breakdown of myelin caused by a variety of enzyme deficiencies, many of which are inherited.

The enzyme deficiency may be in the lysosome peroxisome, or mitochondria, or there may be a specific enzyme deficiency which is not organelle specific.

Examples of lysosomal disorders include metachromatic leukodystrophy, Krabbes disease, the gangliosidosis, mucolipidoses, and mucopolysaccharidoses and mannosidosis. Peroxisomal disorders include adrenoleukodystrophy, classical and neonatal, Zellwegers syndrome and infantile Refsums disease.

The mitochondrial disorders include MELAS (mitochondrial encephalopathy, lactate acidosis and stroke), Leigh's disease, MERFF syndrome (myopathy, encephalopathy, and ragged red fibres) and trichopoliodystrophy (Menkes syndrome).

Enzyme deficiencies are not organelle specific and include deficiencies of aminoacid metabolism such as oculocerebrorenal syndrome, phenylketonuria, and maple syrup urine disease, organic acidurias such as methylmalonic aciduria, propionic aciduria and glutaric aciduria.

Disorders of myelin formation include Cockayne's syndrome and Pelizaeus Merzbacher disease. Other leukodystrophies include Canavans disease and Alexanders disease both of which present with macrocrania.

These conditions produce a wide variety of changes both in white matter and grey matter which are often symmetric and are frequently classified by the distribution of the abnormalities.


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Last Updated: Feb 10, 2010

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