Metachromatic Leukodystrophy

Metachromatic Leukodystrophy

It is defined as the condition in which lipid start to accumulated in your cells. It is the hereditary condition which affect most commonly to spinal cord, brain and peripheral nerves. Metachromatic leukodystrophy occur due to the lack of enzyme which is used to break down the lipids called sulfatides.


Metachromatic leukodystrophy has following signs and symptoms:Metachromatic Leukodystrophy symptoms treatment

  • Seizures
  • Hearing loss
  • Blindness
  • Gallbladder problems
  • Behavioral problems
  • Loss of thinking ability
  • Memory loss

It is the hereditary disorder which is cause by the mutation in the DNA which affect the enzyme synthesis called sulfatides. The most common mutation is occurred in the ARSA gene.


After taking history and performing a general physical examination your doctor might recommend the following tests:

  • Nerve conduction test to check the conduction pathway of neurons,
  • Lab tests to check enzyme level
  • MRI to check the images of brain
  • Genetic test to check the cause of this condition

There is no any specific treatment for this condition is available right now but there are certain treatment options to reduce the signs and symptoms and manage the complications, treatment options include:

  • Nutritional diet to improve feeding condition
  • Medications to reduce the seizures and behavioral issues
  • Physical therapy
  • Speech therapy
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