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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:
In MLD, the body can't properly make an enzyme called galactocerebrosidase. 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.
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:
When the disease begins later, as in the juvenile form, some of the symptoms may include:
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:
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.
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.
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:
During your visit, we'll talk with you about:
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.
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.
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:
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 »
Natural History Study of Children with Metachromatic Leukodystrophy
Longitudinal Investigation of Neurodegenerative Disorders in Children
Study of Reduced-Intensity Conditioning In Patients With Non-Malignant Disorders Undergoing Umbilical Cord, Bone Marrow, or Peripheral Blood Stem Cell Transplantation
Children's Hospital's main campus is located in the Lawrenceville neighborhood. Our main hospital address is:
Children’s Hospital of Pittsburgh of UPMC
One Children’s Hospital Way
4401 Penn Ave.
Pittsburgh, PA 15224
In addition to the main hospital, Children's has many convenient locations in other neighborhoods throughout the greater Pittsburgh region.
With myCHP, you can request appointments, review test results, and more.
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