|
1 / 1
|
DeCS
|
|
 |
|
Descriptor English:
|
|
Glycogen Storage Disease Type I
|
|
Descriptor Spanish:
|
|
Enfermedad del Almacenamiento de Glucógeno Tipo I
|
|
Descriptor Portuguese:
|
|
Doença de Depósito de Glicogênio Tipo I
|
|
Synonyms English:
|
|
Deficiencies, Glucose-6-Phosphatase
Deficiencies, Glucosephosphatase
Deficiency, Glucose-6-Phosphatase
Deficiency, Glucosephosphatase
Disease, Gierke
Disease, Gierke's
Disease, von Gierke
Disease, von Gierke's
Gierke Disease
Gierke's Disease
Gierkes Disease
Glucose 6 Phosphatase Deficiency
Glucose-6-Phosphatase Deficiencies
Glucose-6-Phosphatase Deficiency
Glucosephosphatase Deficiencies
Glucosephosphatase Deficiency
Glycogen Storage Disease 1 (GSD I)
Glycogenosis 1
Hepatorenal Glycogen Storage Disease
von Gierke Disease
von Gierke's Disease
von Gierkes Disease
|
|
Tree Number:
|
|
C16.320.565.202.449.448
C18.452.648.202.449.448
|
|
Definition English:
|
|
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. |
|
Indexing Annotation English:
|
|
do not use /congen & do not coord with INFANT, NEWBORN, DISEASES
|
|
History Note English:
|
|
1989; use GLUCOSEPHOSPHATASE DEFICIENCY 1964-1988; for VON GIERKE'S DISEASE use GLYCOGENOSIS 1963-1964
|
|
Allowable Qualifiers English:
|
|
|
|
Record Number:
|
|
24390
|
|
Unique Identifier:
|
|
D005953
|
Occurrence in VHL:
|
|
|
Similar:
|
|
DeCS
|