Liver Glycogenosis Caused by a Defective Phosphorylase System: Hemolysate Analysis

PEDIATRICS ◽  
1981 ◽  
Vol 67 (1) ◽  
pp. 107-112
Author(s):  
C. Baussan ◽  
N. Moatti ◽  
M. Odievre ◽  
A. Lemonnier
Keyword(s):  
Glycogen Storage Disease ◽  
Kinase Activity ◽  
Storage Disease ◽  
Tolerance Test ◽  
Glycogen Storage ◽  
Enzyme Assays ◽  
Phosphorylase Kinase ◽  
Phosphorylase Activity ◽  
Activation Curve ◽  
Glucosidase Activity

Investigated were 24 cases of glycogenosis caused by a reduction in liver phosphorylase activity. The intravenous glucagon tolerance test could not discriminate between phosphorylase kinase deficiency [glycogen storage disease (GSD) IX] and phosphorylase deficiency (GSD VI). These two subgroups were distinguished by hemolysate enzyme assays: (1) GSD IX was characterized by a residual phosphorylase kinase activity, a low activation curve for endogenous phosphorylase b and increased amylo-1,6-glucosidase activity. (2) GSD VI was characterized by a normal or increased phosphorylase kinase activity, a slight activation of endogenous phosphorylase b and a normal amylo-1,6-glucosidase activity.

PHKG2 mutation spectrum in glycogen storage disease type IXc: a case report and review of the literature

2018 ◽  
Vol 31 (3) ◽  
pp. 331-338 ◽  
Author(s):  
Chunyun Li ◽  
Lihua Huang ◽  
Lang Tian ◽  
Jia Chen ◽  
Shentang Li ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Novel Mutation ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Mutation Spectrum ◽  
Chinese Family ◽  
Phosphorylase Kinase

AbstractBackground:PHKG2gene mutation can lead to liver phosphorylase kinase (PhK) deficiency, which is related to glycogen storage disease type IX (GSD IX). GSD IXc due toPHKG2mutation is the second most common GSD IX.Methods:We identified a novel mutation (c.553C>T, p.Arg185X) inPHKG2in a Chinese family and verified it by next-generation and Sanger sequencing. The mutation spectrum of thePHKG2gene was summarized based on 25 GSD IXc patients withPHKG2mutations.Results:We found that missense mutation (39%) was the most common type of mutation, followed by nonsense mutation (23%). Mutations were more prevalent in Asian (12/25) and European (9/25) populations than in populations from elsewhere. The exons had more sites of mutation than the introns, and exons 3 and 6 were the most frequent sites of mutations.Conclusions:This study expands our knowledge of thePHKG2gene mutation spectrum, providing a molecular basis for GSD IXc.

scholarly journals Glycogen storage disease associated with glycogen deposition in skeletal and heart muscle with low muscle phosphorylase activity.

1985 ◽  
Vol 74 (7) ◽  
pp. 945-951
Author(s):  
Tatsumi UCHIDA ◽  
Akio KODAMA ◽  
Masatoshi TAKEZAWA ◽  
Mikihiro KIJIMA ◽  
Yoshihiro MIYAZAKI ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Heart Muscle ◽  
Storage Disease ◽  
Glycogen Storage ◽  
Phosphorylase Activity ◽  
Muscle Phosphorylase ◽  
Glycogen Deposition ◽  
Muscle Phosphorylase Activity

Mutations in the phosphorylase kinase gene PHKA2 are responsible for X-linked liver glycogen storage disease

1995 ◽  
Vol 4 (1) ◽  
pp. 77-83 ◽  
Author(s):  
J. Hendrickx ◽  
P. Coucke ◽  
E. Dams ◽  
P. Lee ◽  
M. Odievre ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Liver Glycogen ◽  
Glycogen Storage ◽  
Phosphorylase Kinase ◽  
Kinase Gene

GALACTOSE TOLERANCE IN GLYCOGEN STORAGE DISEASE

PEDIATRICS ◽  
1957 ◽  
Vol 19 (4) ◽  
pp. 585-595
Author(s):  
Robert Schwartz ◽  
James Ashmore ◽  
Albert E. Renold
Keyword(s):  
Lactic Acidosis ◽  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Tolerance Test ◽  
Glycogen Storage ◽  
Laboratory Findings ◽  
Galactose Tolerance ◽  
Galactose Tolerance Test

Observations on a 3-month old infant with hypoglycemia and hepatomegaly from hepatorenal glycogen storage disease are reported. The diagnosis was based on analysis of the liver as well as typical clinical and laboratory findings. The liver histologically showed accumulation of glycogen and fat and biochemically was found to be deficient in glucose-6-phosphatase. An oral galactose tolerance test resulted in lactic acidosis with failure to detect any galactose or rise in concentration of glucose in the blood. An intravenous galactose tolerance test on two occasions resulted in the normal disappearance of galactose; however the concentration of glucose remained unchanged or declined, and that of lactate rose. The intravenous galactose test offers a further means for evaluating the glycolytic pathways in the liver in glycogen storage disease.

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