Glycogen Storage Disease Type I [glykogenóza typu I]
- Terms
-
deficience glukóza-6-fosfatázy
deficit glukosa-6-fosfatázy
deficit glukóza-6-fosfatázy
glykogen - nemoc z ukládání typ I
glykogenóza I
hepatorenální glykogenóza
porucha ukládání glykogenu typu I
von Gierkeho nemoc
von Gierkova nemoc
-
Deficiency, Glucosephosphatase
Gierke Disease
Gierke's Disease
Glucose-6-Phosphatase Deficiency
Glucosephosphatase Deficiency
Glycogen Storage Disease 1 (GSD I)
Glycogenosis 1
Hepatorenal Glycogen Storage Disease
von Gierke Disease
von Gierke's Disease
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.
- Annotation
- do not use /congen & do not coord with INFANT, NEWBORN, DISEASES
- DUI
- D005953 MeSH Browser
- CUI
- M0009351
- History note
- 1989; use GLUCOSEPHOSPHATASE DEFICIENCY 1964-1988; for VON GIERKE'S DISEASE use GLYCOGENOSIS 1963-1964
- Public note
- 1989; see GLUCOSEPHOSPHATASE DEFICIENCY 1964-1988; for VON GIERKE'S DISEASE see GLYCOGENOSIS 1963-64
Allowable subheadings
- BL
- blood 1
- CF
- cerebrospinal fluid 0
- CI
- chemically induced 0
- CL
- classification 0
- CO
- complications 3
- DI
- diagnosis 5
- DG
- diagnostic imaging 0
- DH
- diet therapy 0
- DT
- drug therapy 1
- EC
- economics 0
- EM
- embryology 0
- EN
- enzymology 2
- EP
- epidemiology 0
- EH
- ethnology 0
- ET
- etiology 1
- GE
- genetics 6
- HI
- history 0
- IM
- immunology 0
- ME
- metabolism 0
- MI
- microbiology 0
- MO
- mortality 0
- NU
- nursing 0
- PS
- parasitology 0
- PA
- pathology 0
- PP
- physiopathology 1
- PC
- prevention & control 1
- PX
- psychology 0
- RT
- radiotherapy 0
- RH
- rehabilitation 0
- SU
- surgery 1
- TH
- therapy 4
- UR
- urine 0
- VE
- veterinary 0
- VI
- virology 0