scholarly journals Type Ib glycogen storage disease is caused by a defect in the glucose-6-phosphate translocase of the microsomal glucose-6-phosphatase system.

1980 ◽  
Vol 255 (18) ◽  
pp. 8381-8384 ◽  
Author(s):  
A.J. Lange ◽  
W.J. Arion ◽  
A.L. Beaudet
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage ◽  
Phosphatase System

scholarly journals Liver Microsomal Transport of Glucose-6-Phosphate, Glucose, and Phosphate in Type 1 Glycogen Storage Diseases1

1998 ◽  
Vol 83 (1) ◽  
pp. 224-229
Author(s):  
P. Marcolongo ◽  
G. Bánhegyi ◽  
A. Benedetti ◽  
C. J. Hinds ◽  
A. Burchell
Keyword(s):  
Light Scattering ◽  
Kinetic Analysis ◽  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Liver Microsomes ◽  
Glycogen Storage ◽  
Microsomal Membrane ◽  
Scattering Method ◽  
Phosphatase System

The transport of glucose-6-phosphate (G6P), glucose, and orthophosphate into liver microsomes, isolated from six patients with various subtypes of type 1 glycogen storage disease (GSD), was measured using a light-scattering method. We found that G6P, glucose, and phosphate could all cross the microsomal membrane, in four cases of type 1a GSD. In contrast, liver microsomal transport of G6P and phosphate was deficient in the GSD 1b and 1c patients, respectively. These results support the involvement of multiple proteins (and genes) in GSD type 1. The results obtained with the light-scattering method are in accordance with conventional kinetic analysis of the microsomal glucose-6-phosphatase system. Therefore, this technique could be used to directly diagnose type 1b and 1c GSD.

scholarly journals Glycogen Storage Disease Type 1b: Microsomal Glucose-6-Phosphatase System in Two Patients with Different Clinical Findings

1983 ◽  
Vol 17 (7) ◽  
pp. 545-549 ◽  
Author(s):  
Kuniaki Narisawa ◽  
Hiromi Otomo ◽  
Yutaka Igarashi ◽  
Nobuhiro Arai ◽  
Masatoshi Otake ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Clinical Findings ◽  
Disease Type ◽  
Phosphatase System

A direct method for the diagnosis of human hepatic type 1b and type 1c glycogen-storage disease

1989 ◽  
Vol 76 (6) ◽  
pp. 573-579 ◽  
Author(s):  
Ian D. Waddell ◽  
Robert Hume ◽  
Ann Burchell
Keyword(s):  
Glycogen Storage Disease ◽  
Needle Biopsy ◽  
Storage Disease ◽  
Direct Method ◽  
Glycogen Storage ◽  
Phosphatase System ◽  
A Direct Method

1. Type 1b and type 1c glycogen-storage disease are caused respectively by deficiencies of the glucose-6-phosphate translocase and the phosphate/pyrophosphate translocase of the human hepatic microsomal glucose-6-phosphatase system. 2. Current methods of unequivocally diagnosing type 1b and type 1c glycogen storage disease are indirect and complex. 3. We have therefore developed a simple, rapid and direct microfiltration assay for the glucose-6-phosphate translocase and the phosphate/pyrophosphate translocase. 4. We have demonstrated that the microfiltration assay can be used to directly diagnose type 1b and type 1c glycogen-storage disease in microsomes isolated from hepatic needle-biopsy samples.

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