{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,27]],"date-time":"2026-01-27T08:25:16Z","timestamp":1769502316337,"version":"3.49.0"},"reference-count":18,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2021,5,9]],"date-time":"2021-05-09T00:00:00Z","timestamp":1620518400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJNS"],"abstract":"<jats:p>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\u2019 specimens (0.06%) having reduced GALC activity were sent out for second-tier testing to a reference laboratory. All newborns\u2019 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 (\u22652 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 &lt; 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.<\/jats:p>","DOI":"10.3390\/ijns7020024","type":"journal-article","created":{"date-parts":[[2021,5,10]],"date-time":"2021-05-10T02:54:58Z","timestamp":1620615298000},"page":"24","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Newborn Screening for Krabbe Disease\u2014Illinois Experience: Role of Psychosine in Diagnosis of the Disease"],"prefix":"10.3390","volume":"7","author":[{"given":"Khaja","family":"Basheeruddin","sequence":"first","affiliation":[{"name":"Newborn Screening Laboratory, Illinois Department of Public Health, Chicago, IL 60612, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rong","family":"Shao","sequence":"additional","affiliation":[{"name":"Newborn Screening Laboratory, Illinois Department of Public Health, Chicago, IL 60612, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fran","family":"Balster","sequence":"additional","affiliation":[{"name":"Newborn Screening Laboratory, Illinois Department of Public Health, Chicago, IL 60612, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pearlie","family":"Gardley","sequence":"additional","affiliation":[{"name":"Newborn Screening Laboratory, Illinois Department of Public Health, Chicago, IL 60612, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Ashbaugh","sequence":"additional","affiliation":[{"name":"Office of Health Promotion, Illinois Department of Public Health, Springfield, IL 62671, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2021,5,9]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1016\/j.jpeds.2017.06.048","article-title":"Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience","volume":"190","author":"Burton","year":"2017","journal-title":"J. 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