Search on: GLYCOGEN STORAGE DISEASE TYPE VIII 
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Descriptor English:   Glycogen Storage Disease Type VIII 
Descriptor Spanish:   Enfermedad del Almacenamiento de Glucógeno Tipo VIII 
Descriptor Portuguese:   Doença de Depósito de Glicogênio Tipo VIII 
Synonyms English:   Glycogenosis 8  
Tree Number:   C16.320.322.217
C16.320.565.202.449.620
C18.452.648.202.449.620
Definition English:   An x-linked recessive hepatic glycogen storage disease resulting from lack of expression of phosphorylase-b-kinase activity. Symptoms are relatively mild; hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase are present. Liver shrinkage occurs in response to glucagon. 
Indexing Annotation English:   do not use /congen & do not coord with INFANT, NEWBORN, DISEASES
History Note English:   91(89); was see under GLYCOGEN STORAGE DISEASE 1989-90; was GLYCOGENOSIS 8 see under GLYCOGENOSIS 1975-88 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
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
RA radiography RI radionuclide imaging
RT radiotherapy RH rehabilitation
SU surgery TH therapy
US ultrasonography UR urine
VE veterinary VI virology
Record Number:   24398 
Unique Identifier:   D006015 

Occurrence in VHL:
 

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