Metachromatic leukodystrophy
Metachromatic leukodystrophy (MLD) is a lysosomal storage disease which is commonly listed in the family of leukodystrophies as well as among the sphingolipidoses as it affects the metabolism of sphingolipids. Leukodystrophies affect the growth and/or development of myelin, the fatty covering which acts as an insulator around nerve fibers throughout the central and peripheral nervous systems. MLD involves cerebroside sulfate accumulation. Metachromatic leukodystrophy, like most enzyme deficiencies, has an autosomal recessive inheritance pattern.
| Metachromatic leukodystrophy | |
|---|---|
| Other names | MLD, Arylsulfatase A deficiency, ARSA deficiency |
| Sulfatide | |
| Specialty | Endocrinology, neurology |
| Symptoms | Progressive neurologic decline |
| Complications | Dementia, seizures, loss of motor skills |
| Usual onset | Late infantile (1-2 years), juvenile (3-20 years) or adulthood (around 40s) |
| Duration | Late infantile (3-10 years), juvenile and adult (varies) |
| Types | Late infantile, juvenile, or adult |
| Causes | Lysosomal storage disease |
| Diagnostic method | Enzyme based and genetics |
| Treatment | HSCT (pre-symptomatic), Gene therapy (late infantile), Palliative |
| Prognosis | fatal |
| Frequency | 1 in 40,000 births |
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