Metachromatic Leukodystrophy

(Sulfatide lipidosis)

The metachromatic leukodystrophy is a sphingolipidosis, an inherited metabolic disorder caused by a arylsulfatase A defect that leads to progressive paralysis and dementia and early death at 10 years.

For more information, see Table sphingolipidosis.

The metachromatic leukodystrophy is a sphingolipidosis, an inherited metabolic disorder caused by a arylsulfatase A defect that leads to progressive paralysis and dementia and early death at 10 years. For more information, see Table sphingolipidosis. See also approach in a patient suspected of having an inborn error of metabolism, the accumulation in the nervous system causes central and peripheral demyelination. In the metachromatic leukodystrophy Metachromatic fats accumulate in the white matter, the peripheral nerves, kidney, spleen, and other visceral organs caused by the Arylsulfatase A deficiency. One knows numerous mutations. Disease onset and progression vary from patient to patient. The childhood form is characterized by a progressive paralysis and dementia that begins before the age of 4 and within 5 years after onset of symptoms leads to death. The juvenile form begins between 4 and 16 years of age with gait disorders, intellectual impairment and peripheral neuropathy. In contrast to the infantile form of the tendon reflexes are very lively. There is also a milder adult form. A tentative diagnosis of metachromatic leukodystrophy and is made clinically by the presence of a decreased nerve conduction and confirmed by an enzyme deficiency in white blood cells, or cultured skin fibroblasts. (See also check on suspicion of inherited metabolic disorders.) There is no effective treatment for metachromatic leukodystrophy.

Health Life Media Team

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