BACKGROUND: Krabbe disease is a rare neurodegenerative genetic disorder caused 
by deficiency of galactocerebrosidase. Patients with the infantile form of 
Krabbe disease can be treated at a presymptomatic stage with human stem cell 
transplantation which improves survival and clinical outcomes. However, without 
a family history, most cases of infantile Krabbe disease present after onset of 
symptoms and are ineligible for transplantation. In 2006, New York began 
screening newborns for Krabbe disease to identify presymptomatic cases. To 
ensure that those identified with infantile disease received timely treatment, 
New York public health and medical systems took steps to accurately diagnose and 
rapidly refer infants for human stem cell transplantation within the first few 
weeks of life. After 11 years of active screening in New York and the 
introduction of Krabbe disease newborn screening in other states, new 
information has been gained which can inform the design of newborn screening 
programs to improve infantile Krabbe disease outcomes.
FINDINGS: Recent information relevant to Krabbe disease screening, diagnosis, 
and treatment were assessed by a diverse group of public health, medical, and 
advocacy professionals. Outcomes after newborn screening may improve if 
treatment for infantile disease is initiated before 30 days of life. Newer 
laboratory screening and diagnostic tools can improve the speed and specificity 
of diagnosis and help facilitate this early referral. Given the rarity of Krabbe 
disease, most recommendations were based on case series or expert opinion.
CONCLUSION: This report updates recommendations for Krabbe disease newborn 
screening to improve the timeliness of diagnosis and treatment of infantile 
Krabbe disease. In the United States, several states have begun or are 
considering Krabbe disease newborn screening. These recommendations can guide 
public health laboratories on methodologies for screening and inform clinicians 
about the need to promptly diagnose and treat infantile Krabbe disease. The 
timing of the initial referral after newborn screening, the speed of diagnostic 
confirmation of infantile disease, and the transplantation center's experience 
and ability to rapidly respond to a suspected patient with newly diagnosed 
infantile Krabbe disease are critical for optimal outcomes.