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Article

Newborn Screening for Krabbe Disease—Illinois Experience: Role of Psychosine in Diagnosis of the Disease

1
Newborn Screening Laboratory, Illinois Department of Public Health, Chicago, IL 60612, USA
2
Office of Health Promotion, Illinois Department of Public Health, Springfield, IL 62671, USA
*
Author to whom correspondence should be addressed.
Academic Editors: Joseph Orsini and Michele Caggana
Int. J. Neonatal Screen. 2021, 7(2), 24; https://0-doi-org.brum.beds.ac.uk/10.3390/ijns7020024
Received: 24 March 2021 / Revised: 30 April 2021 / Accepted: 3 May 2021 / Published: 9 May 2021
(This article belongs to the Special Issue Newborn Screening and Follow-Up Diagnostic Testing for Krabbe Disease)
Population-based newborn screening for Krabbe disease was initiated by measurement of galactocerebrosidase (GALC) activity in the state of Illinois in December 2017. Due to the poor specificity of GALC for the diagnosis of Krabbe disease, second-tier testing services were provided to reduce the false positive rates for disease monitoring. Using ultra-pressure liquid chromatography coupled to mass spectrometry assay, a total of 497,147 newborns were screened. In total, 288 infants’ specimens (0.06%) having reduced GALC activity were sent out for second-tier testing to a reference laboratory. All newborns’ reduced GALC specimens were tested for psychosine levels, the presence of a 30-kb deletion and GALC sequencing. The results showed that two infants had elevated psychosine levels (10 and 35 nM) and were referred immediately for evaluation and treatment for Infantile Krabbe disease, and six infants had intermediate PSY levels (≥2 to 5 nM) and are under observation as suspected candidates for late-onset Krabbe disease. In addition, 178 infants had pseudodeficiency alleles, all having psychosine levels < 2.0 nM. Our data show that a high percentage of reduced GALC activity (62%) was due to the presence of pseudodeficiency alleles in the GALC gene. In conclusion, incorporation of psychosine measurements can identify infants with infantile Krabbe disease and probable late-onset Krabbe infants. Furthermore, Krabbe disease screening can be achieved at public health laboratories, and infants with infantile Krabbe disease can be diagnosed in timely manner for better outcome. View Full-Text
Keywords: newborn screening; dried blood spot; galactocerebrosidase; Krabbe disease; psychosine; lysosomal enzymes newborn screening; dried blood spot; galactocerebrosidase; Krabbe disease; psychosine; lysosomal enzymes
MDPI and ACS Style

Basheeruddin, K.; Shao, R.; Balster, F.; Gardley, P.; Ashbaugh, L. Newborn Screening for Krabbe Disease—Illinois Experience: Role of Psychosine in Diagnosis of the Disease. Int. J. Neonatal Screen. 2021, 7, 24. https://0-doi-org.brum.beds.ac.uk/10.3390/ijns7020024

AMA Style

Basheeruddin K, Shao R, Balster F, Gardley P, Ashbaugh L. Newborn Screening for Krabbe Disease—Illinois Experience: Role of Psychosine in Diagnosis of the Disease. International Journal of Neonatal Screening. 2021; 7(2):24. https://0-doi-org.brum.beds.ac.uk/10.3390/ijns7020024

Chicago/Turabian Style

Basheeruddin, Khaja, Rong Shao, Fran Balster, Pearlie Gardley, and Laura Ashbaugh. 2021. "Newborn Screening for Krabbe Disease—Illinois Experience: Role of Psychosine in Diagnosis of the Disease" International Journal of Neonatal Screening 7, no. 2: 24. https://0-doi-org.brum.beds.ac.uk/10.3390/ijns7020024

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