Search
glycogen storage disease type-VI (Hers type glycogen storage disease)
Pathology:
- heart & skeletal muscle are not affected
Genetics:
- associated with defects in PYGL
Clinical manifestations:
- prominent hepatomegaly
- growth retardation
Laboratory:
- mild to moderate fasting hypoglycemia
- mild ketosis
Special laboratory:
- no response of plasma glucose to IM glucagon
Related
phosphorylase-L (liver glycogen phosphorylase, PYGL)
General
glycogen storage disease (glycogenosis)
Properties
DEFICIENT-PROTEIN: phosphorylase-L
CONFIGURATION: dimer
COMPARTMENT: cytoplasm
CELL: hepatocyte
MOTIF: Ser phosphorylation site {S15}
binding site
SITE: 76-76
FOR-BINDING-OF: AMP
cysteine residue {109}
cysteine residue {143}
tyrosine residue {156}
cofactor-binding site [681-681]
FOR-BINDING-OF: pyridoxal phosphate
Database Correlations
OMIM 232700
References
Clinical Diagnosis & Management by Laboratory Methods,
J.B. Henry (ed), W.B. Saunders Co., Philadelphia,
PA. 1991, pg 185