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

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 i...

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Autores principales: Corre, Camille S., Matern, Dietrich, Pellegrino, Joan E., Saavedra-Matiz, Carlos A., Orsini, Joseph J., Thompson-Stone, Robert
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8162352/
https://www.ncbi.nlm.nih.gov/pubmed/34071213
http://dx.doi.org/10.3390/ijns7020028
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author Corre, Camille S.
Matern, Dietrich
Pellegrino, Joan E.
Saavedra-Matiz, Carlos A.
Orsini, Joseph J.
Thompson-Stone, Robert
author_facet Corre, Camille S.
Matern, Dietrich
Pellegrino, Joan E.
Saavedra-Matiz, Carlos A.
Orsini, Joseph J.
Thompson-Stone, Robert
author_sort Corre, Camille S.
collection PubMed
description 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.
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spelling pubmed-81623522021-05-29 Low Psychosine in Krabbe Disease with Onset in Late Infancy: A Case Report Corre, Camille S. Matern, Dietrich Pellegrino, Joan E. Saavedra-Matiz, Carlos A. Orsini, Joseph J. Thompson-Stone, Robert Int J Neonatal Screen Case Report 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. MDPI 2021-05-28 /pmc/articles/PMC8162352/ /pubmed/34071213 http://dx.doi.org/10.3390/ijns7020028 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Corre, Camille S.
Matern, Dietrich
Pellegrino, Joan E.
Saavedra-Matiz, Carlos A.
Orsini, Joseph J.
Thompson-Stone, Robert
Low Psychosine in Krabbe Disease with Onset in Late Infancy: A Case Report
title Low Psychosine in Krabbe Disease with Onset in Late Infancy: A Case Report
title_full Low Psychosine in Krabbe Disease with Onset in Late Infancy: A Case Report
title_fullStr Low Psychosine in Krabbe Disease with Onset in Late Infancy: A Case Report
title_full_unstemmed Low Psychosine in Krabbe Disease with Onset in Late Infancy: A Case Report
title_short Low Psychosine in Krabbe Disease with Onset in Late Infancy: A Case Report
title_sort low psychosine in krabbe disease with onset in late infancy: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8162352/
https://www.ncbi.nlm.nih.gov/pubmed/34071213
http://dx.doi.org/10.3390/ijns7020028
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