Special Issue "Newborn Screening and Follow-Up Diagnostic Testing for Krabbe Disease"

Special Issue Editors

Dr. Joseph Orsini
E-Mail Website
Guest Editor
Newborn Screening Program, Wadsworth Center, New York State Department of Health, Albany, 12201-2002 NY, USA
Interests: newborn screening; lysosomal storage disorders; Krabbe disease; genetics
Dr. Michele Caggana
E-Mail Website
Guest Editor
Newborn Screening Program, Wadsworth Center, New York State Department of Health, Albany, 12201-2002 NY, USA
Interests: newborn screening; genetic testing; public health outcomes; new screening assay development/implementation

Special Issue Information

Dear Colleagues,

Newborn screening for Krabbe disease (KD) was initiated in New York State in 2006 using a tandem mass spectrometry-based enzyme assay. At the time screening was initiated, the reported incidence for disease was ~1:100,000. As of April 2109, New York has screened ~3 million newborns and has detected five early infantile KD cases and two infants with infantile KD. The low detection rate in New York was surprising, and now that multiple other states have initiated screening, it is of interest to learn how other state incidence rates compare to New York. For the first 8 years of screening in New York, the screen positive rate was 0.017%, a number that is very high relative to the true positive case rate. Effective March 2018, New York made major changes its algorithm, including the adoption of the Mayo Clinic Collaborative Laboratory Integrated Reports data analysis tool, which significantly reduced the screen positive rate to 0.006%. These screen positive rates will likely be further reduced when second-tier testing for psychosine is implemented. Psychosine is highly elevated in newborns with early infantile KD; thus, this analyte can be used to identify newborns in need of rapid evaluation and treatment, which is critical to improving outcomes in this population. Over this same period, New York also identified an additional 28 infants that are thought to be at risk for late onset KD. Some of these infants have genotypes consistent with late onset KD patients reported in the literature, and others do not. Most of these newborns have dried blood spot psychosine levels that are in an intermediate range when compared to screen-negative infants and those infants with early infantile KD.

This Special Issue on newborn screening for Krabbe disease in the International Journal of Neonatal Screening will focus on state-collected newborn screening data and short- and long-term follow-up of newborns identified with early or possible late onset forms of KD. It will also provide insight into the genetic and pathophysiological underpinnings of Krabbe disease.

The following topics could be interesting for the reader.

  1. State-wide newborn screening for Krabbe disease algorithms/testing/outcome reports.
  2. Genotype data for newborns identified with Krabbe disease and possible KD.
  3. Use of psychosine as a second-tier test.
  4. Long-term follow-up of newborns identified with possible late onset KD.
  5. Challenges for programs.

Dr. Joseph Orsini
Dr. Michele Caggana
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All papers will be peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Neonatal Screening is an international peer-reviewed open access quarterly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 500 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.


  • newborn screening
  • Krabbe disease
  • psychosine
  • long-term follow-up

Published Papers

This special issue is now open for submission.
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