Families

families

Are you, a member of your family or a friend suffering from Metachromatic Leukodystrophy (MLD)? If you are then we are here to offer you help, information and support. We are an information website set up by two parents who have children with MLD and have been through your journey. Dealing with MLD is difficult […]

Health Professionals

Nurse

If you are a health professional dealing with a case of Metachromatic Leukodystrophy (MLD) then we can offer information on the disease, details of palliative and therapeutic care and contacts to specialists in the field. Please Contact Us with your questions and we will endeavour to put you in touch with the relevant specialists. We […]

Donate

Thank you

The primary aim of MLD Support Association UK is to use donations and grants received to support and assist families affected by Metachromatic Leukodystrophy, by providing a forum for sharing information, and to advise families of any other assistance which might be available to them. There is a hope that we will eventually be able […]

What is MLD?

Diagram of a Neuron showing the location of the Myelin Sheath

Neuron and Myelin Sheath

MLD is an acronym for Metachromatic Leukodystrophy. MLD is a genetic disorder which at the moment has no cure. MLD is directly caused by a deficiency of the enzyme Arylsulfatase A and is usually characterized by enzyme activity which is less than 10% of human controls. Without this enzyme, sulfatides build up in many tissues of the body, eventually destroying the myelin sheath of the nervous system.

The myelin sheath is a fatty covering that protects nerve fibres. Without it, the nerves in the brain (central nervous system — CNS) and the peripheral nerves (peripheral nervous system – PNS) which control, among other things the muscles related to mobility, cease to function properly.

Types of MLD

  • late_infantile2

    Late-Infantile MLD

    The most common initial signs and symptoms in children who develop MLD during the first 2 years of life are, after a period of normal growth and development, abnormal or erratic movements and other changes in the way they move particularly when they are crawling/walking. Unfortunately, as MLD is such a rare disease and health […]

  • juvenile2

    Juvenile MLD

    Patients who start to develop symptoms from around 4 and 16 years of age often show initial impairments in fine motor skills and concentration and may develop behavioural problems, particularly at school. They begin to find it difficult keeping up with their peers and may sometimes be referred to a child psychologist or psychiatrist as […]

  • adult_onset2

    Adult MLD

    Adult MLD is the rarest form of Metachromatic Leukodystrophy and, generally, the most difficult to diagnose. Early signs and symptoms in adults who develop MLD are frequently an apparently sudden and unexpected poor performance in school or other academic work. Initially, this decline seems to be very slow and almost imperceptible. Along with the slow […]

About us

MLD Support Association UK was set up to bring hope to families in the fight to eradicate Metachromatic Leukodystrophy (MLD). Our aim is to provide support by way of shared information from people in similar circumstances who have already experienced the effects of the condition and/or any treatments available.

MLD Support Association UK

MLD Support Association UK is a
Registered Charity Number 1150542

Patrons
Professor Timothy M Cox, MD, FRCP, FMedSci
Suzi Digby (Lady Eatwell) OBE
Iain Stewart MP

Contact

MLD Support Association UK
Floor 5
Amphenol Business Complex
Thanet Way
Whitstable
CT5 3SB

Tel: 07836 627485 / 07977 440809
admin@mldsupportuk.org.uk