Glycogen storage disease is a metabolic disorder caused by enzyme deficiencies affecting glycogen synthesis, breakdown, or glucose breakdown in muscles and liver cells. It can be genetic or acquired. Genetic glycogen storage disease is caused by inherited errors in metabolism resulting in defective enzymes, while acquired glycogen storage disease in livestock is caused by castanospermine intoxication. Some examples of genetic glycogen storage diseases include Von Gierke's disease, Pompe's disease, Cori's disease, and Anderson disease. Polyglucosan body disease/amylopectinosis is an extremely rare hereditary metabolic disorder caused by absence of the enzyme amylo-1,4,1,6-transglucosidase, which

1. Glycogen storage disease

2.  A glycogen storage disease ( GSD also glycogenosis and
dextrinosis ) is a metabolic disorder caused by enzyme
deficiencies affecting either glycogen synthesis , glycogen
breakdown or glycolysis ( glucose break down )typically within
muscles and lives cells .

4.  Genetic and acquired. Genetic GSD is caused by any
Inborn error of metabolism ( genetically defective enzymes)
involved in these processes. In livestock, acquired GSD is
caused by intoxication with the alkaloid castanospermine.

5.  Von Gierke’s disease
 Pompe’s disease
 Coris disease
 Anderson disease
 Mcardle’s disease
 Her’s disease

6.  glycogen branching enzyme deficiency polyglucosan body
disease amylopectinosis.
 Extremely rare hereditary metabolic disorder produced by
absence of the enzyme amylo- 1:4, 1:6- transglucosidase.
 which is an essential mediator of the synthesis of
glycogen.
 An abnormal form of glycogen, amylopectin, is produced and
accumulates in body tissues , particularly in the liver and
heart.

7.  Decrease joint stiffness ( arthrogryposis) .
 Severe hypotonia and atrophy.
 The congenital muscular type of 4 is usually not evident
before birth but develops in early infancy these babies often
have dilated cardiomyopathy.
 Mutation of GBE 1 gene( 1,4- a- glucan branching enzyme 1).
 Death by 2 years.

10. o Genetic condition
o Metabolic condition
o Congenital condition- metabolic disorder
o Liver condition

11. i. Failure to thrive.
ii. Poor infant weight gain.
iii. Lack of infant muscle tone.
iv. Enlarged liver.
v. Growth delay in childhood.
vi. Reduce blood glucose.
vii. Even heart abnormalities.

12.  Requires detection of deficient GBE activity (indirect
enzyme assay).
 Specilized imaging techniques;
e.g., abdominal ultrasound,
CT scanning and / or MRI.
 liver function test.
 urine analysis.
 blood test for examining glucose.

13.  Strict diatary therapy can help to maintain normal level of
glucose in the blood, reduce liver size, reduce symptoms, and
allow for improved growth and development.
 High-protein diet may improve muscle function.
 Liver transplantation may be necessary for individuals.

16. BY
G. vaishnavi
B. pharm
SVCPS
Gobi.