title: Proton MR spectroscopy of the lumbar spine in patients with glycogen storage disease type Ib.
abstract: Glycogen storage disease type Ib is an autosomal recessive inherited metabolic disorder resulting from deficiency of the microsomal glucose-6-phosphatase enzyme system. Six patients (three of which were treated with granulocyte colony stimulating factor) suffering from this disease were examined using image guided localized proton magnetic resonance (MR) spectroscopy. The relative signal intensities of water and lipid protons of the lumbar spine were determined. Comparison was made with iliac crest biopsies in the glycogen storage disease type Ib patients and localized proton MR spectroscopic values of the lumbar spine obtained by thirteen healthy volunteers. The data demonstrate for the first time that hypercellularity and myeloid hyperplasia in subjects with glycogen storage disease type Ib due to functionally impaired leucocytes results in a strongly increased water proton signal with a very low or absent lipid signal in localized proton MR spectroscopy. Upon granulocyte colony stimulating factor treatment, the water proton signal in the lumbar spine is not further augmented.
authors.affiliation: Institute of Diagnostic Radiology, Heinrich-Heine University, Medical Center, Düsseldorf, Germany. scherera@uni-duesseldorf.de
authors.forename: A
authors.initials: A
authors.lastname: Scherer
authors.forename: H J
authors.initials: HJ
authors.lastname: Wittsack
authors.forename: V
authors.initials: V
authors.lastname: Engelbrecht
authors.forename: S
authors.initials: S
authors.lastname: Schwarz
authors.forename: P
authors.initials: P
authors.lastname: May
authors.forename: L W
authors.initials: LW
authors.lastname: Poll
authors.forename: J A
authors.initials: JA
authors.lastname: Koch
authors.forename: U
authors.initials: U
authors.lastname: Wendel
authors.forename: U
authors.initials: U
authors.lastname: Mödder
mesh_terms: D000293:Adolescent; D000328:Adult; D001854:Bone Marrow Cells / Q000187:drug effects / Q000473:pathology*; D005260:Female; D005953:Glycogen Storage Disease Type I / Q000175:diagnosis / Q000473:pathology* / Q000628:therapy; D016179:Granulocyte Colony-Stimulating Factor / Q000627:therapeutic use; D006801:Humans; D008159:Lumbar Vertebrae / Q000473:pathology*; D009682:Magnetic Resonance Spectroscopy; D008297:Male
chemical_list: D016179:Granulocyte Colony-Stimulating Factor