title: Impaired chemotaxis and neutrophil (polymorphonuclear leukocyte) function in glycogenosis type IB.
abstract: Polymorphonuclear leukocyte (PMN) function was investigated in two patients with glycogen storage disease type IB and neutropenia. Glycogen storage disease type IB was documented by liver biopsy and a normal amount of latent glucose-6-phosphatase activity. Patient A had stomatitis, skin infections, and septicemia; patient B had respiratory infections, periodontitis, and oral candidiasis. Absolute neutrophil counts ranged from 114 to 2580/mm3. Diminished and delayed migration of PMN into a skin "window" occurred in B. Random and directed PMN migration under agarose toward f-Met-Leu-Phe, pepstatin A, and zymosan-activated serum were severely diminished in both patients. At 10(-7) M f-Met-Leu-Phe, mean random and directed migration were 52 and 23% (A, n = 3) and 48 and 13% (B, n = 4) of controls. These results were independent of incubation time and chemoattractant concentration. Patients' PMN had diminished quantitative nitroblue tetrazolium reduction compared to controls. B had a significant defect in PMN bactericidal activity with Escherichia coli with less than 0.2 log killing at 2 h. These results further characterize the defect in PMN migration reported by Beaudet et al. (J Pediatr 97:906, 1980). The finding of other abnormalities of PMN function suggests a metabolic defect in the neutrophil which may be related to the microsomal membrane defect in hepatocytes in glycogen storage disease type IB.
authors.forename: N L
authors.initials: NL
authors.lastname: Koven
authors.forename: M M
authors.initials: MM
authors.lastname: Clark
authors.forename: C S
authors.initials: CS
authors.lastname: Cody
authors.forename: C A
authors.initials: CA
authors.lastname: Stanley
authors.forename: L
authors.initials: L
authors.lastname: Baker
authors.forename: S D
authors.initials: SD
authors.lastname: Douglas
mesh_terms: D000293:Adolescent; D001770:Blood Bactericidal Activity; D002634:Chemotaxis, Leukocyte; D002648:Child; D005260:Female; D005953:Glycogen Storage Disease Type I / Q000503:physiopathology*; D006098:Granulocytes / Q000502:physiology; D006801:Humans; D008297:Male; D009504:Neutrophils / Q000502:physiology*