Descriptors Found: 1
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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
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:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DG diagnostic imaging DH diet therapy
DT drug therapy EC economics
EM embryology EN enzymology
EP epidemiology EH ethnology
ET etiology GE genetics
HI history IM immunology
ME metabolism MI microbiology
MO mortality NU nursing
PS parasitology PA pathology
PP physiopathology PC prevention & control
PX psychology RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   24390 
Unique Identifier:   D005953 

Occurrence in VHL: