Glycogen storage disease 1 is an autosomal recessive disorder caused by mutations of the SLC37A4 or G6PC gene. It manifests in liver and kidney. The renal disease includes most commonly glomerulosclerosis. A renotubular Fanconi syndrome is also observed in some cases.
|Metabolic disturbances of proximal tubular function|
|Fanconi renotubular syndrome|
|Glycogen storage disease 1|
|Glycogen storage disease 1A|
|Glycogen storage disease 1B|
|Glycogen storage disease 1C|
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None (1980) Is type 1b glycogenosis related to an anomeric preference for glucose-6-phosphate uptake by hepatic microsomes?
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OMIM.ORG articleOmim 232200