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

Low Psychosine in Krabbe Disease with Onset in Late Infancy: A Case Report

1
Department of Neurology, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642, USA
2
Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA
3
Inherited Metabolic Specialty Center, Department of Pediatrics, Upstate Medical University, Syracuse, NY 13010, USA
4
NY State Newborn Screening Program, Wadsworth Center, New York State Department of Health, Al-bany, NY 13010, USA
*
Author to whom correspondence should be addressed.
Academic Editor: David S. Millington
Int. J. Neonatal Screen. 2021, 7(2), 28; https://0-doi-org.brum.beds.ac.uk/10.3390/ijns7020028
Received: 23 April 2021 / Revised: 19 May 2021 / Accepted: 24 May 2021 / Published: 28 May 2021
(This article belongs to the Special Issue Newborn Screening and Follow-Up Diagnostic Testing for Krabbe Disease)
Krabbe disease (KD) is a rare inherited neurodegenerative disorder caused by a deficiency in galactocerebrosidase enzyme activity, which can present in early infancy, requiring an urgent referral for hematopoietic stem cell transplantation, or later in life. Newborn screening (NBS) for KD requires identification and risk-stratification of patients based on laboratory values to predict disease onset in early infancy or later in life. The biomarker psychosine plays a key role in NBS algorithms to ascertain probability of early-onset disease. This report describes a patient who was screened positive for KD in New York State, had a likely pathogenic genotype, and showed markedly reduced enzyme activity but surprisingly low psychosine levels. The patient ultimately developed KD in late infancy, an outcome not clearly predicted by existing NBS algorithms. It remains critical that psychosine levels be evaluated alongside genotype, enzyme activity levels, and the patient’s evolving clinical presentation, ideally in consultation with experts in KD, in order to guide diagnosis and plans for monitoring. View Full-Text
Keywords: Krabbe disease; psychosine; newborn screening Krabbe disease; psychosine; newborn screening
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MDPI and ACS Style

Corre, C.S.; Matern, D.; Pellegrino, J.E.; Saavedra-Matiz, C.A.; Orsini, J.J.; Thompson-Stone, R. Low Psychosine in Krabbe Disease with Onset in Late Infancy: A Case Report. Int. J. Neonatal Screen. 2021, 7, 28. https://0-doi-org.brum.beds.ac.uk/10.3390/ijns7020028

AMA Style

Corre CS, Matern D, Pellegrino JE, Saavedra-Matiz CA, Orsini JJ, Thompson-Stone R. Low Psychosine in Krabbe Disease with Onset in Late Infancy: A Case Report. International Journal of Neonatal Screening. 2021; 7(2):28. https://0-doi-org.brum.beds.ac.uk/10.3390/ijns7020028

Chicago/Turabian Style

Corre, Camille S., Dietrich Matern, Joan E. Pellegrino, Carlos A. Saavedra-Matiz, Joseph J. Orsini, and Robert Thompson-Stone. 2021. "Low Psychosine in Krabbe Disease with Onset in Late Infancy: A Case Report" International Journal of Neonatal Screening 7, no. 2: 28. https://0-doi-org.brum.beds.ac.uk/10.3390/ijns7020028

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