Metachromatic leukodystrophy

Sulphatide lipidosis, sulphatidosis, Greenfield’s disease, MLD or globoid cell leukodystrophy

What is metachromatic leukodystrophy?

Metachromatic leukodystrophy (MLD) is a rare condition that affects the brain, spinal cord and the peripheral nervous system.

This condition impacts the white matter in the brain, causing a decreased function in physical and mental skills.

As MLD is so rare, children who live with it can often be diagnosed with cerebral palsy. In juvenile form, depression is often suspected and with the adult form schizophrenia is often misdiagnosed.

There is currently no cure for MLD, however there are drugs to help people deal with symptoms like seizures and spasms. Bone marrow transplants can delay the progression in some infantile cases.

What is the cause of metachromatic leukodystrophy?

MLD is genetic, and 2 parents have to be carriers of the specific gene to have a child with this condition.

MLD is caused by a build-up of fatty materials (called lipids) and other storage materials in nerve cells and the brain’s white matter.

This is due to a lack of an enzyme that that breaks down these lipids.

The brain and nervous system then decline in function because the substance that protects these nerve cells (myelin) is damaged.

There are 3 forms of MLD:

  • Late infantile form: This is the most common with diagnosis usually taking place before the age of two.
  • Juvenile form: This normally starts in children between 3-16 years old.
  • Adult form: This form is the least common and is usually diagnosed after 16.

What are the symptoms of MLD?

The symptoms of MLD are as follows:

Late infantile form:

  • Decline in muscle function/motor skills
  • Progressive loss of speech
  • Abnormal and erratic movements
  • Weight loss
  • Feeding problems

Juvenile Form:

  • Lack of concentration
  • Behavioural problems
  • Trouble keeping up at school
  • Decline in motor skills and co-ordination
  • Slurred speech
  • Incontinence

Adult form:

  • Sudden or unexpected poor performance at work/university/school
  • Emotional instability
  • Memory loss
  • Personality changes
  • Incontinence

Are you affected by metachromatic leukodystrophy?

If you’re affected by metachromatic leukodystrophy, The Brain Charity can support you.

We are the only charity in the UK to be here for every one of the more than 600 different neurological conditions in existence. Individually, many are rare, but combined, they affect 1 in 6 people.

We provide practical help on all aspects of living with metachromatic leukodystrophy, emotional support such as counselling, phone befriending and group therapy and social activities to people with MLD and their family, friends and carers from all over the UK from our centre in Liverpool.

Looking to talk to someone?

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Phone us

Contact The Brain Charity now

Our friendly Information & Advice Officers are here to help. We endeavour to respond to all enquiries within 10 working days.

0151 298 2999

Looking to talk to someone?

  • Please tell us which neurological condition you are affected by and what you need support with.

Caring for someone with metachromatic leukodystrophy

We support carers, friends and family too

Are you a carer for or relative of someone with metachromatic leukodystrophy? It’s just as important for you to look after your own physical and mental wellbeing too.

The Brain Charity provides free support for carers, friends and family of people with any form of neurological condition, including metachromatic leukodystrophy, from anywhere in the UK.

We also run an additional carers advocacy service for all carers in Liverpool, regardless of which type of condition the person they care for has.

You don’t need to be a formal or registered carer

We can help you even if you don’t view yourself as a formal carer or claim Carer’s Allowance. Find out some of the ways we support carers below.

Other resources

Support groups

Health unlocked peer support

Support groups at The Brain Charity

Are you interested in setting up a metachromatic leukodystrophy support group, or do you already run one? Email to let us know.

Alternatively, you can check out our list of related support groups here.

Other charities

MLD Support Association UK