Metachromatic leukodystrophy
| 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 |
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 that acts as an insulator around nerve fibers throughout the central and peripheral nervous systems. MLD involves cerebroside sulfate accumulation.[1][2] Metachromatic leukodystrophy, like most enzyme deficiencies, has an autosomal recessive inheritance pattern.[2]
- ^ "metachromatic leukodystrophy" at Dorland's Medical Dictionary
- ^ a b Le, Tao; Bhushan, Vikas; Hofmann, Jeffrey (2012). First Aid for the USMLE Step 1. McGraw-Hill. p. 117. ISBN 9780071776363.