What is Metachromatic Leukodystrophy (MLD)?

Metachromatic leukodystrophy (MLD) is an inherited condition. This means parents pass the gene for the condition to a child.

There are three forms of this condition:

  • Late infantile MLD — the most common, and normally occurs between 6 months and two years of age.
  • Juvenile MLD — occurs from around age 4 through adolescence, and the disease progresses more slowly.
  • Adult MLD — happens in adulthood

In MLD, the body can't properly make an enzyme called arylsulfatase A. This leads to a loss of myelin — which protects the body's nerves — and causes nerve damage.

Nerve damage keeps the brain from sending signals to the body which leads to MLD symptoms.

Metachromatic Leukodystrophy Symptoms

Symptoms of MLD may start as early as 6 months, or as late as 2 years in children who the infantile form.

MLD symptoms may include:

  • Trouble walking
  • Impaired speech
  • Muscle weakness

When the disease begins later, as in the juvenile form, some of the symptoms may include:

  • Problems following directions
  • New problems with speech
  • Behavioral problems
  • Loss of muscle tone
  • Trouble with balance, coordination, and walking

Diagnosing MLD

If your child has any of the above symptoms, it's important that a doctor make a diagnosis quickly.

Your doctor will examine your child, and learn about his or her medical history.

Some tests your child may need are:

  • Blood and urine testing.
  • MRI to look for changes in the brain.

Metachromatic Leukodystrophy Treatment

Right now, there's no cure for MLD. Children with this disease may benefit from physical therapy, and by closely following the progression of their disease.

An umbilical cord blood transplant has extended the lives of many children with MLD. Transplant isn't an option for all children with MLD, but your child's doctor may discuss it with you.

Learn more about transplant at the Division of Blood and Marrow Transplantation (BMT) and Cellular Therapies.

Maria Escolar, MD
Director, Program for the Study of Neurodevelopment in Rare Disorders

An NIH-funded researcher, Dr. Escolar is internationally known for her work in mucopolysaccharidosis, leukodystrophies, and other white matter brain diseases. Her program designed the first neuroimaging tool that predicts the progression of leukodystrophies.

Your Child's MLD Consult and Care: What to Expect

If a doctor diagnosed your child with metachromatic leukodystrophy, we want you to know you're not alone. The Center for Rare Disease Therapy is here to help.

The Program for the Study of Neurodevelopment in Rare Disorders (NDRD) can usually see a new patient within 1 week.

To make an appointment for your child or refer a patient for MLD care, contact us by:

Here’s what you can expect when you come to us for your child's first consult.

What should I expect at my child's first MLD visit?

You can expect your first visit to take from 4 hours to several days.

Your child will have a thorough exam from Maria Escolar, MD, director, Program for the Study of NDRD.

Dr. Escolar will make or confirm a precise MLD diagnosis and find out how much the disease has progressed.

Because we work as a team here at the center, other doctors and staff might see your child during your visit.

These may include specialists in:

  • Genetic diseases
  • Brain diseases
  • Child development
  • Hearing
  • Physical therapy

During your visit, we'll talk with you about:

  • Likely next steps for your child in the near future.
  • Options for treating your child's metachromatic leukodystrophy.
  • Ways to care for your child at home to help improve his or her quality of life.

If we think transplant might be a good option for your child, we'll discuss the details. We want to make sure you know what the transplant entails and how you may need to prepare.

By the end of your visit, you will have a care plan tailored to your child’s MLD and needs. We'll also schedule a follow-up visit in 3 months.

You'll meet our nurse practitioner (NP). You can contact our NP by phone or video conference with any concerns you have between now and your next appointment.

Before you leave, please feel free to ask us about your child' MLD diagnosis, treatment, or anything else on your mind.

If my child had tests at the Center for Rare Disease Therapy, when should I expect the results?

You can expect to meet with Dr. Escolar to review results and explain next steps during your visit.

You can also find your child's test results if you signed up for myCHP — Children's patient portal.

myCHP lets you manage your child's health online. It's free to patients, parents, and guardians of Children's Hospital of Pittsburgh of UPMC.

Partners in Your Child's Metachromatic Leukodystrophy Care

When a child has a rare disease like MLD, it affects the whole family.

At the Center for Rare Disease Therapy, we see each family member as our partners.

The best care approach happens when we merge our MLD expertise with your knowledge of what’s best for your child.

Contact us to make an appointment or learn more about your child's metachromatic leukodystrophy:

Center for Rare Disease Therapy patient storiesMeet Our Patients

Learn how families are finding help and hope through the expertise of the Center for Rare Disease Therapy at Children’s Hospital of Pittsburgh of UPMC.

View patient stories »


Clinical Studies

Late Infantile Metachromatic Leukodystrophy Treatment with Intrathecal SHP611 – Phase II

Study of Intrathecal SHP611 in Subjects with Late Infantile Metachromatic Leukodystrophy

Read more

Neurodegenerative Disorders Study

Longitudinal Investigation of Neurodegenerative Disorders in Children

Read more

*Non-Malignant Marrow Disorder Treatment using Reduced Intensity Conditioning – Phase II

Study of Reduced-Intensity Conditioning In Patients With Non-Malignant Disorders Undergoing Umbilical Cord, Bone Marrow, or Peripheral Blood Stem Cell Transplantation

Read more

*Original research initiated by investigators at UPMC Children’s Hospital of Pittsburgh.