Preferred Label : glycogen storage disease type i;

MeSH definition : An autosomal recessive disease in which gene expression of glucose-6-phosphatase is absent, resulting in hypoglycemia due to lack of glucose production. Accumulation of glycogen in liver and kidney leads to organomegaly, particularly massive hepatomegaly. Increased concentrations of lactic acid and hyperlipidemia appear in the plasma. Clinical gout often appears in early childhood.;

MeSH synonym : glycogen storage disease 1 (GSD I); gierke's disease; von gierke's disease; disease, gierke's; glycogenosis 1; glucosephosphatase deficiencies; hepatorenal glycogen storage disease; gierke disease; deficiency, glucose-6-phosphatase; disease, von gierke; deficiencies, glucosephosphatase; disease, gierke; gierkes disease; glucose-6-phosphatase deficiency; deficiencies, glucose-6-phosphatase; glucose 6 phosphatase deficiency; glucose-6-phosphatase deficiencies; von gierke disease; disease, von gierke's; von gierkes disease; deficiency, glucosephosphatase; glucosephosphatase deficiency;

MeSH annotation : do not use /congen & do not coord with INFANT, NEWBORN, DISEASES;

Wikipedia link : https://en.wikipedia.org/wiki/Glycogen storage disease type i;

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An autosomal recessive disease in which gene expression of glucose-6-phosphatase is absent, resulting in hypoglycemia due to lack of glucose production. Accumulation of glycogen in liver and kidney leads to organomegaly, particularly massive hepatomegaly. Increased concentrations of lactic acid and hyperlipidemia appear in the plasma. Clinical gout often appears in early childhood.

https://www.has-sante.fr/jcms/p_3385268/fr/glycogenose-de-type-i
2022
France
practice guideline
Handbook
Chronic disease
glycogen storage disease, type i
chronic disease, nos
chronic disease
Glycogenosis
Diseases
glycogen storage disease type i

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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=79258
2011
France
scientific and technical information
hepatorenal form of glycogen storage disease
glycogen storage disease type i

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27/04/2025


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