D2I2.
genetic

Metachromatic leukodystrophy

Metachromatic leukodystrophy (MLD) is a storage disease which is commonly listed in the family of leukodystrophies as well as among the sphingolipidoses as it affects the 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 nervous systems. MLD involves cerebroside sulfate accumulation. Metachromatic leukodystrophy, like most deficiencies, has an inheritance pattern.

Underlined words are explained — tap any of them.

Symptoms — what it feels like

  • ·Progressive neurologic decline

Causes — why it happens

  • · storage disease

How it's found

  • · based and

Treatment

  • ·HSCT (pre-), Gene therapy (late infantile), Palliative

Complications

  • ·, , loss of motor skills

Outlook

  • ·fatal
Plain-language summary adapted from Wikipedia. Not medical advice.