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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| Format: | Article |
| Language: | English |
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MDPI AG
2021-05-01
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| Series: | International Journal of Neonatal Screening |
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| Online Access: | https://www.mdpi.com/2409-515X/7/2/28 |
| _version_ | 1797532346329595904 |
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| author | Camille S. Corre Dietrich Matern Joan E. Pellegrino Carlos A. Saavedra-Matiz Joseph J. Orsini Robert Thompson-Stone |
| author_facet | Camille S. Corre Dietrich Matern Joan E. Pellegrino Carlos A. Saavedra-Matiz Joseph J. Orsini Robert Thompson-Stone |
| author_sort | Camille S. Corre |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-03-10T10:57:51Z |
| format | Article |
| id | doaj.art-b2e625b1690f44cbb0e90cbc2881fb22 |
| institution | Directory Open Access Journal |
| issn | 2409-515X |
| language | English |
| last_indexed | 2024-03-10T10:57:51Z |
| publishDate | 2021-05-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Neonatal Screening |
| spelling | doaj.art-b2e625b1690f44cbb0e90cbc2881fb222023-11-21T21:45:55ZengMDPI AGInternational Journal of Neonatal Screening2409-515X2021-05-01722810.3390/ijns7020028Low Psychosine in Krabbe Disease with Onset in Late Infancy: A Case ReportCamille S. Corre0Dietrich Matern1Joan E. Pellegrino2Carlos A. Saavedra-Matiz3Joseph J. Orsini4Robert Thompson-Stone5Department of Neurology, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642, USABiochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA Inherited Metabolic Specialty Center, Department of Pediatrics, Upstate Medical University, Syracuse, NY 13010, USANY State Newborn Screening Program, Wadsworth Center, New York State Department of Health, Al-bany, NY 13010, USANY State Newborn Screening Program, Wadsworth Center, New York State Department of Health, Al-bany, NY 13010, USADepartment of Neurology, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642, USAKrabbe 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.https://www.mdpi.com/2409-515X/7/2/28Krabbe diseasepsychosinenewborn screening |
| spellingShingle | Camille S. Corre Dietrich Matern Joan E. Pellegrino Carlos A. Saavedra-Matiz Joseph J. Orsini Robert Thompson-Stone Low Psychosine in Krabbe Disease with Onset in Late Infancy: A Case Report International Journal of Neonatal Screening Krabbe disease psychosine newborn screening |
| 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 | Krabbe disease psychosine newborn screening |
| url | https://www.mdpi.com/2409-515X/7/2/28 |
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