Metachromatic Leukodystrophy

Metachromatic Leukodystrophy


What is Metachromatic Leukodystrophy?

Enzymes in the body assist in the breakdown of substances entering the body from outside. In the absence or deficiency of some enzymes, the body will not break down a substance. In this case, the substance stays in the body and accumulates and the accumulated substance causes various complications.


Metachromatic leukodystrophy occurs due to the absence of the enzyme arylsulfatase A in the body. Arylsulfatase A is responsible for breaking down fats. In the absence of this enzyme, fats that cannot be broken down begin to accumulate in the cells of the kidney, brain, spinal cord and nervous system. Fats accumulating here cause damage.


MLD (metachromatic leukodystrophy) is a rare disease. It is inherited and some children are carriers only.


Metachromatic Leukodystrophy Symptoms

General symptoms of the disease are:

  • Abnormal muscle movements
  • Decrease in muscle tone
  • Difficulty walking and frequent falls
  • Behavioral problems
  • İrritability
  • Seizures
  • Eating disorder
  • Difficulty swallowing


How is it Treated?

  • There is no cure for this disease, but various treatments are applied to improve the patient's quality of life and symptoms are reduced.
  • Medication is administered to strengthen the muscles.
  • Therapies for speech and behavioral disorders
  • Nutritional support for eating and swallowing problems
  • Bone marrow transplantation


Diseases similar to MLD

The diseases we list below can sometimes be confused with metachromatic leukodystrophy:

  • Arylsulfatase A deficiency
  • Cerebral sclerosis
  • Greenfield's disease
  • Cerebroside sulfatase deficiency
  • Sulfatide lipidosis