Krabbe Disease

Globoid Cell Leukodystrophy

Krabbe (pronounced “crab A”) disease is an inherited condition caused by a faulty gene. Children with Krabbe disease lack an enzyme called GALC that the body needs to make myelin, a substance that insulates nerve fibers to protect them from damage. Without myelin, nerves throughout the body don’t function as they should. Symptoms often begin to appear when a child is about 3 to 6 months old. Children with Krabbe disease may cry a lot, feed poorly, and have fevers, stiff limbs, and other symptoms. The medical name for Krabbe disease is globoid cell leukodystrophy.

Maria Escolar, MD

Director, Program for the Study of Neurodevelopment in Rare Disorders

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

What to Expect

If your child has recently been diagnosed with Krabbe disease, we want you to know that you are not alone — the Program for the Study of Neurodevelopment in Rare Disorders, part of the Center for Rare Disease Therapy at Children's Hospital of Pittsburgh of UPMC is here to help. Here's what you can expect when you come to us for a consultation. 

How quickly can we get an appointment?

The Program for the Study of Neurodevelopment in Rare Disorders can usually see a new patient within two days. To make an appointment, please Mary Brannaman at 412-692-6350.

How long should we expect our first visit with the doctor to take?

You can expect your first visit to take from 4 to 6 hours. Your child will receive a comprehensive evaluation and may be seen by several other doctors and health care professionals in addition to our expert, Maria Escolar, MD, MS, director of the Program for the Study of Neurodevelopment in Rare Disorders.

What will happen during our first visit?

Your child will receive a comprehensive evaluation to establish or confirm a precise diagnosis and determine how much the disease has progressed. Because we work as a team here at the Center for Rare Disease Therapy, during your visit your child may be seen by several other doctors and health care professionals in addition to Dr. Escolar, including a specialist in genetic diseases, a specialist in brain diseases, a specialist in child development, a hearing specialist, and a physical therapist.

We understand that the whole family is affected when a child has a rare disease. We see each family as our partner in caring for their child. We think the best approach to caring for a child with a rare disease emerges when we combine our depth of experience in rare diseases with your expertise in what’s best for your child.

We will talk with you about what we think is likely to happen with your child in the near future and about options we can suggest for treating and caring for your child. If surgery is an option for your child, we will help you understand what the surgery entails and what you may need to do to prepare for it. We will also talk with you about what you can do at home to care for your child and improve his or her quality of life. Please feel free to ask our specialists any questions you have about your child’s disease, treating and caring for your child, or anything else that is on your mind.

By the end of your visit, you will have a care plan tailored to your child’s needs and an appointment for a follow-up visit in 3 months. You will be introduced to our clinical nurse practitioner, who is available by phone or video conference to help you with any concerns you have between now and your next appointment.

How long might we have to wait for test results?

You can expect to receive a phone call within 2 weeks to explain test results and discuss recommended next steps. Test results are also made available on Children's patient portal, myCHP, which is provided at no cost to patients, parents, and guardians.

Learn more about Lily's experience with Krabbe Disease at Children's Hospital.Lily's Story

At age 4½ months, Lily was diagnosed with Krabbe disease. A transplant of umbilical cord blood at Children’s Hospital halted the progression of this devastating disease.

Learn More>>

Contact Us

At the Center for Rare Disease Therapy, every child diagnosed with a rare disease receives an individualized treatment plan and family-centered care.

For an appointment, consultation, or patient referral with an expert at Children’s Hospital of Pittsburgh of UPMC for a child diagnosed with Krabbe disease, please contact:

Phone: 412-692-7273

Clinical Studies

Krabbe Disease and Motor Impairment Identification Using MRI

DTI as a Tool to Identify Infants with Krabbe Disease in Need of Urgent Treatment

Read more

Krabbe Disease Progression Study

The Natural History of Infantile Globoid Cell 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