title: Severe systemic immune response syndrome, low plasma paraoxonase activity, and a new albumin species in a traumatized patient with Gaucher's disease.
abstract: BACKGROUND
  Gaucher's disease (GD) is an inborn error, autosomal recessive lysosomal lipid storage disorder characterized by the lack of the enzyme glucocerebrosidase. We observed some abnormalities in the plasma of a traumatized patient with GD.
  
  
  METHODS
  We report of a traumatized patient with GD that developed a severe systemic immune response during the course of an extended hospital stay. Plasma paraoxonase (PON) activity was assayed and found to be extremely low possibly due to the existence of GD in this particular patient. Also, a potentially novel post-translational modification (PTM) of albumin was noticed in the patient's plasma that coincided with enzyme replacement therapy (ERT) with Cerezyme.
  
  
  CONCLUSIONS
  The decreased plasma PON activity measured might be a contributive factor in the development of an accentuated systemic immune response in a traumatized patient with GD. A modified albumin species could serve as a biomarker for ERT in Gaucher patients.
authors.affiliation: Swedish Medical Center, Trauma Research Laboratory, Englewood, CO 80113, USA. dbaror@dmibio.com
authors.forename: David
authors.initials: D
authors.lastname: Bar-Or
authors.forename: Leonard T
authors.initials: LT
authors.lastname: Rael
authors.forename: Raphael
authors.initials: R
authors.lastname: Bar-Or
authors.forename: Gregory W
authors.initials: GW
authors.lastname: Thomas
authors.forename: Denetta S
authors.initials: DS
authors.lastname: Slone
authors.forename: Isaac
authors.initials: I
authors.lastname: Melamed
authors.forename: Michael L
authors.initials: ML
authors.lastname: Craun
mesh_terms: D000368:Aged; D000418:Albumins / Q000145:classification / Q000378:metabolism*; D000595:Amino Acid Sequence; D043303:Aryldialkylphosphatase / Q000097:blood / Q000378:metabolism*; D005776:Gaucher Disease / Q000276:immunology*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D011499:Protein Processing, Post-Translational / Q000276:immunology*; D018746:Systemic Inflammatory Response Syndrome / Q000097:blood / Q000276:immunology*; D014947:Wounds and Injuries
chemical_list: D000418:Albumins; D043303:Aryldialkylphosphatase