title: Determination of psychosine concentration in dried blood spots from newborns that were identified via newborn screening to be at risk for Krabbe disease.
abstract: BACKGROUND
  New York State has screened over 1.2 million newborns for Krabbe disease, and we identified 4 newborns with infantile Krabbe disease. In addition, 6 other newborns were identified with very low galactosylcerebrosidase (GALC) activity. Because these patients remain asymptomatic, we investigated whether psychosine levels could be a useful marker for disease.
  
  
  METHODS
  HPLC-MS/MS methodology was used to determine the psychosine concentrations in dried blood spots (DBS) collected from the following cohorts: known Krabbe patients, screened babies that were determined to have infantile Krabbe disease, asymptomatic infants with low GALC activity, and normal controls.
  
  
  RESULTS
  The psychosine concentrations from the known Krabbe patients ranged from 7 to 50 ng/ml. Newborns identified by screening who were confirmed with infantile Krabbe disease ranged from 23 to 73 ng/ml. Asymptomatic individuals with low GALC activity had concentrations ranging from 1.7 to 5.7 ng/ml. Concentrations in newborns with normal GALC activity were all <3 ng/ml.
  
  
  CONCLUSIONS
  The psychosine concentrations in DBS from confirmed infantile patients are at least four times higher than the asymptomatic newborns and nearly an order of magnitude greater than normal newborns. Further studies are needed to determine if psychosine can be used as a predictor of disease status/progression in screen positive newborns.
authors: Genzyme Corporation, Framingham, MA 01701-09322, United States.
authors: Wei-Lien
authors: WL
authors: Chuang
authors: Josh
authors: J
authors: Pacheco
authors: X Kate
authors: XK
authors: Zhang
authors: Monica M
authors: MM
authors: Martin
authors: Chad K
authors: CK
authors: Biski
authors: Joan M
authors: JM
authors: Keutzer
authors: David A
authors: DA
authors: Wenger
authors: Michele
authors: M
authors: Caggana
authors: Joseph J
authors: JJ
authors: Orsini
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D004198:Disease Susceptibility; D059788:Dried Blood Spot Testing; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007965:Leukodystrophy, Globoid Cell / Q000097:blood*; D015997:Neonatal Screening; D011609:Psychosine / Q000097:blood*; D012307:Risk Factors
chemical_list: D011609:Psychosine