Krabbe Newborn Screening and Diagnosis

February 1, 2023

Krabbe Disease is a severe and fatal disease that occurs in 1 in 100,000 births. Babies with infantile Krabbe disease can be identified through newborn screening assays that utilize a combination of GALC enzyme level and the biomarker psychosine.  Treatment of babies with infantile Krabbe disease has the best outcomes if delivered in the first month of life.  Current treatment of babies with infantile Krabbe disease is hematopoietic stem cell transplantation preferably utilizing an unrelated umbilical cord blood donor.

Newborn screening can also identify babies at risk for later onset Krabbe disease. Practice guidelines for management and subsequent follow-up of babies diagnosed through newborn screening are available.

Currently, 10 states include Krabbe Disease in their newborn screening panels and the condition is under review for inclusion on the Recommended Uniform Screening Panel by the Advisory Committee on Heritable Disorders in Newborns and Children.

The course is led by Joanne Kurtzberg, MD (Duke Medical University), Dr. Dietrich Matern, MD, PhD (Mayo Clinic), and Joseph Orsini, PhD (Wadsworth Center).

Keywords: Krabbe Disease, Globoid Cell Leukodystrophy, Newborn Screening, Krabbe Leukodystrophy, GALC Deficiency, Galactocerebrosidase Deficiency, Infantile Globoid Cell Leukodystrophy, Krabbe’s Disease, Krabbe’s Leukodystrophy, Late-Onset Globoid Cell Leukodystrophy, Leukodystrophy, Globoid Cell, Classic, Leukodystrophy, Globoid Cell, Early-Onset, Leukodystrophy, Globoid Cell, Infantile, Leukodystrophy, Globoid Cell, Late-Onset

Target Audience

  • Geneticists
  • Genetic Counselors
  • Neurologists
  • Nurse Practitioners
  • Nurses
  • Pediatricians

Learning Objectives

Participants who engage in this educational intervention will be able to:

  • Become familiar with the pattern of inheritance and clinical manifestations of Krabbe disease.
  • Learn about the need for newborn screening for Krabbe disease, understanding the critical need for early diagnosis and treatment.
  • Interpret the results of a newborn screening report to understand whether a baby has or is at risk for developing Krabbe disease.
Additional information


Anna Grantham
Phone Number: 
+1 (251) 300-4321
Course summary
Available credit: 
  • 1.00 AMA PRA Category 1 Credit(s)™
    AMA PRA Category 1 Credit(s)™
  • 1.00 Hours of Participation
    Hours of Participation credit.
Course opens: 
Course expires: 
Event starts: 
02/01/2023 - 12:00pm CST
Event ends: 
02/01/2023 - 1:00pm CST

In accordance with the ACCME® Standards for Integrity and Independence in Accredited Continuing Education, Standard 3, all in control of content must disclose any relevant financial relationships. The following in control of content had no relevant financial relationships to disclose.

Joanne Kurtzberg, MD
Jerome Harris Distinguished Professor of Pediatrics
Professor of Pathology
Director, Marcus Center for Cellular Cures
Director, Pediatric Blood and Marrow Transplant Program
Duke University Medical Center

Dietrich Matern, MD, PhD
Professor of Laboratory Medicine and Pathology, Medical Genetics, and Pediatrics
Co-Director, Biochemical Laboratory
Mayo Clinic, Rochester, MN

Joseph Orsini, PhD
Deputy Directory of the Newborn Screening Program
New York State Department of Health

The following persons in control of content disclosed the following financial relationships which were reviewed via the MCW conflict of interest mitigation process and addressed.


Joanne KurtzbergCryoCell InternationalConsultant
Joanne KurtzbergCelularityAdvisory Committee
Joanne KurtzbergNeurogeneConsultant
Dietrich MaternNeurogeneAdvisory Committee
Dietrich MaternUp To DateAuthor of Textbook Chapter


ACCME Accreditation Statement:

The Medical College of Wisconsin is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians.

AMA Credit Designation Statement:

The Medical College of Wisconsin designates this live activity for a maximum of 1 AMA PRA Category 1 Credit(s)™.  Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Hours of Participation for Allied Health Care Professionals: 

The Medical College of Wisconsin designates this activity for up to 1 hours of participation for continuing education for allied health professionals. 

Available Credit

  • 1.00 AMA PRA Category 1 Credit(s)™
    AMA PRA Category 1 Credit(s)™
  • 1.00 Hours of Participation
    Hours of Participation credit.


Please login or register to take this course.

There is a $25 dollar Certificate fee that must be paid to claim credit. Once the fee has been paid, you will be able to proceed with claiming credit.