Metachromatic Leukodystrophy


Metachromatic leukodystrophy (MLD) is a type of leukodystrophy (type of white matter disease of the central nervous system - brain & spinal cord). There is imperfect formation of myelin in the CNS and also along the peripheral nerves.

For more details on the basics, classification, usual clinical manifestation of the different white matter diseases of the CNS please click on Leukodystrophy .

What is wrong with MLD?

It is an AR (autosomal recessive) type of leukodystrophy. It is a type of lysosomal storage disorder. There is a deficiency of an enzyme by name arylsulfatase A and this causes imperfect formation of myelin and also accumulation of sulfatide, lysosulfatides etc.

Types of MLD

There are 3 types

• Infantile
• Juvenile
• Adult types

Infantile type is the commonest type and most serious form. It begins to manifest around age 1. The juvenile type starts manifesting around 2 ½ to 10, and the adult form generally begins above 16yrs of age.


The following tests may be employed during the diagnosis of MLD;

• Arylsulfatase enzyme estimation
• Genetic test
• EMG/NCS (electromyography & nerve conduction studies) to demonstrate peripheral neuropathy
• CSF (cerebrospinal fluid) analysis to demonstrate elevated protein etc


Currently there is no cure for MLD. The treatment is supportive & symptomatic. There are various research studies going on treatments like ERT (enzyme replacement therapy), gene therapy, bone marrow/stem cell transplantation therapy etc.

A Neurologist (pediatric and/or adult) is commonly involved in the care of MLD patients.

Metachromatic leukodystrophy to Neurology Articles


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