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Metachromatic leukodystrophy (MLD) is a disease passed from parent to child through a broken gene.
In MLD, the body can't properly make the enzyme arylsulfatase A. This leads to a loss of myelin — the special coating that protects the body's nerves.
Without enough myelin, the nerves stop working right.
Nerve damage keeps the brain from sending signals to the body, which leads to MLD symptoms.
There are three types of this condition:
MLD symptoms may start as early as 6 months or as late as 2 years.
Symptoms may include:
Children with late-infantile MLD often lose the ability to walk and talk within a few months of the first symptoms.
When MLD starts later in a child's life, its progression is often slower.
Some of the symptoms of juvenile MLD may include:
A doctor must make a diagnosis quickly if your child has any of the above symptoms.
The doctor will check your child and learn about their medical history.
Some tests your child may need are:
Right now, there's no cure for MLD.
Doctors will closely follow the progression of the disease and work to offer supportive care. This is care that helps improve your child's quality of life.
Children with MLD may find PT helps them move better. It can also make muscles less painful and stiff.
Our physical therapists also provide assistive devices, like walkers and wheelchairs.
Speech therapy can help children learn ways to communicate and treat swallowing issues.
Our speech therapists work with nutritionists to make sure your child gets proper nutrition if they have trouble swallowing.
Your child's doctor may also prescribe drugs to help:
An umbilical cord blood transplant has extended the lives of many children with MLD. It can't undo the damage done, but it may keep it from getting worse.
Transplant isn't an option for all children with MLD, but your child's doctor may discuss it with you.
If a doctor diagnosed your child with metachromatic leukodystrophy, we want you to know you're not alone. The Center for Rare Disease Therapy (CRDT) at UPMC Children's Hospital of Pittsburgh is here to help.
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 a few days.
Your child will have a thorough exam at the Neurodevelopment in Rare Disorders Program (NDRD). Deepa Rajan, MD, from the NDRD will make or confirm a precise MLD diagnosis and learn how much it’s progressed.
Because we work as a team at the center, other doctors and staff might see your child during your visit.
These may include experts in:
Before you leave, we'll talk with you about:
We'll discuss the details if we think a transplant might be a good option for your child. 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'll have a care plan tailored to your child's MLD and needs.
We'll also schedule a follow-up visit in three months.
You'll meet our nurse practitioner. You can contact them by phone or video conference with any concerns you have between now and your next appointment.
Before you leave, please ask us about your child's MLD diagnosis, treatment, or anything else on your mind.
You can expect to meet with Dr. Rajan to review the results and explain the next steps during your visit.
You can also find your child's test results on MyCHP — Children's patient portal. MyCHP portal lets you manage your child's health online.
It's free to patients, parents, and guardians of UPMC Children's Hospital of Pittsburgh.
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 partner. The best care approach happens when we merge our MLD expertise with your knowledge of what's best for your child.
Learn how others are finding help and hope for their child’s rare disease through the expertise at UPMC Children’s.
View Center for Rare Disease Therapy patient stories »
At the CRDT, every child diagnosed with a rare disease receives a tailored treatment plan and family-centered care.
For an appointment, consult, or referral, contact us:
We’ll be in touch within 2 business days.
Children's Hospital's main campus is located in the Lawrenceville neighborhood. Our main hospital address is:
UPMC Children’s Hospital of Pittsburgh 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.
For questions about a hospital bill call:
To pay your bill online, please visit UPMC's online bill payment system.
Interested in giving to Children's Hospital? Support the hospital by making a donation online, joining our Heroes in Healing monthly donor program, or visiting our site to learn about the other ways you can give back.