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
|
| MeSH Number(s) |
C16.320.565.202.449.448 C18.452.648.202.449.448
|
| 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
|
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.
To see the data from this visualization as text,
click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2006 | 1 | 0 | 1 |
| 2008 | 2 | 0 | 2 |
| 2016 | 1 | 0 | 1 |
To return to the timeline,
click here.
Below are the most recent publications written about "Glycogen Storage Disease Type I" by people in Profiles.
-
A pediatric patient with glycogen storage disease type IA and Castleman disease. Pediatr Blood Cancer. 2017 08; 64(8).
-
Absence of the SRC-2 coactivator results in a glycogenopathy resembling Von Gierke's disease. Science. 2008 Nov 28; 322(5906):1395-9.
-
Psychosocial functioning in youth with glycogen storage disease type I. J Pediatr Psychol. 2008 Aug; 33(7):728-38.
-
Acute pancreatitis after anesthesia with propofol in a child with glycogen storage disease type IA. Paediatr Anaesth. 2006 Jun; 16(6):680-3.
-
Lack of effect of lithium carbonate in patients with glycogenosis Ib. Am J Dis Child. 1987 Sep; 141(9):985-6.
-
Impaired monocyte function in glycogen storage disease type Ib. Eur J Pediatr. 1986 Sep; 145(4):312-4.
-
Optimal rate of enteral glucose administration in children with glycogen storage disease type I. N Engl J Med. 1986 Mar 13; 314(11):682-5.
-
Glucose production and utilization in children with glycogen storage disease type I. Am J Physiol. 1984 Oct; 247(4 Pt 1):E513-9.
-
Acute myelogenous leukemia and malignant hyperthermia in a patient with type 1b glycogen storage disease. J Pediatr. 1984 Sep; 105(3):428-31.
-
Ultrasonographic features of hepatic adenomas in type I glycogen storage disease. J Ultrasound Med. 1983 Feb; 2(2):51-4.