 Glycogen Storage Disease Type I
"Glycogen Storage Disease Type I" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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.
| Descriptor ID |
D005953
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| MeSH Number(s) |
C16.320.565.202.449.448 C18.452.648.202.449.448
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| Concept/Terms |
Glycogen Storage Disease Type I- Glycogen Storage Disease Type I
- Gierke Disease
- Disease, Gierke
- Gierke's Disease
- Disease, Gierke's
- Gierkes Disease
- Glucose-6-Phosphatase Deficiency
- Deficiencies, Glucose-6-Phosphatase
- Deficiency, Glucose-6-Phosphatase
- Glucose 6 Phosphatase Deficiency
- Glucose-6-Phosphatase Deficiencies
- Glycogen Storage Disease 1 (GSD I)
- Glycogenosis 1
- Hepatorenal Glycogen Storage Disease
- von Gierke Disease
- Disease, von Gierke
- von Gierke's Disease
- Disease, von Gierke's
- von Gierkes Disease
- Deficiency, Glucosephosphatase
- Deficiencies, Glucosephosphatase
- Glucosephosphatase Deficiencies
- Glucosephosphatase Deficiency
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Below are MeSH descriptors whose meaning is more general than "Glycogen Storage Disease Type I".
Below are MeSH descriptors whose meaning is more specific than "Glycogen Storage Disease Type I".
This graph shows the total number of publications written about "Glycogen Storage Disease Type I" by people in this website by year, and whether "Glycogen Storage Disease Type I" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2010 | 1 | 0 | 1 | | 2022 | 1 | 0 | 1 | | 2023 | 0 | 1 | 1 |
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Below are the most recent publications written about "Glycogen Storage Disease Type I" by people in Profiles.
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Lee C, Pratap K, Zhang L, Chen HD, Gautam S, Arnaoutova I, Raghavankutty M, Starost MF, Kahn M, Mansfield BC, Chou JY. Inhibition of Wnt/?-catenin signaling reduces renal fibrosis in murine glycogen storage disease type Ia. Biochim Biophys Acta Mol Basis Dis. 2024 01; 1870(1):166874.
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Gr?nert SC, Derks TGJ, Adrian K, Al-Thihli K, Ballhausen D, Bidiuk J, Bordugo A, Boyer M, Bratkovic D, Brunner-Krainz M, Burlina A, Chakrapani A, Corpeleijn W, Cozens A, Dawson C, Dhamko H, Milosevic MD, Eiroa H, Finezilber Y, Moura de Souza CF, Garcia-Jim?nez MC, Gasperini S, Haas D, H?berle J, Halligan R, Fung LH, H?rbe-Blindt A, Horka LM, Huemer M, U?ar SK, Kecman B, Kilavuz S, Kriv?n G, Lindner M, L?sebrink N, Makrilakis K, Mei-Kwun Kwok A, Maier EM, Maiorana A, McCandless SE, Mitchell JJ, Mizumoto H, Mundy H, Ochoa C, Pierce K, Fraile PQ, Regier D, Rossi A, Santer R, Schuman HC, Sobieraj P, Spenger J, Spiegel R, Stepien KM, Tal G, Tan?ek MZ, Torkar AD, Tchan M, Thyagu S, Schrier Vergano SA, Vucko E, Weinhold N, Zsidegh P, Wortmann SB. Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire. Genet Med. 2022 08; 24(8):1781-1788.
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Alsultan A, Sokol RJ, Lovell MA, Thurman G, Ambruso DR. Long term G-CSF-induced remission of ulcerative colitis-like inflammatory bowel disease in a patient with glycogen storage disease Ib and evaluation of associated neutrophil function. Pediatr Blood Cancer. 2010 Dec 15; 55(7):1410-3.
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Wolf B, Freehauf CL, Thomas JA, Gordon PL, Greene CL, Ward JC. Markedly elevated serum biotinidase activity may indicate glycogen storage disease type Ia. J Inherit Metab Dis. 2003; 26(8):805-9.
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McCabe ER, Melvin TR, O'Brien D, Montgomery RR, Robinson WA, Bhasker C, Brown BI. Neutropenia in a patient with type IB glycogen storage disease: in vitro response to lithium chloride. J Pediatr. 1980 Dec; 97(6):944-6.
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