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STORAGE
DISEASE
Prepared by:
Canceran, Charlene
Abendan, Kenneth Jairuz
Lagpao, Dan Adrian
TYPE
OF GSD
OTHER NAMES
Type 1
Type 2
Pompe disease
Type 3
Type 4
amylopectinosis or
Andersen disease
Type 5
McArdle disease
Type 6
Hers disease
Type 7
Tarui disease
MISSING ENZYME
MUTATION
mutations in
glucose-6-phosphatase
G6PCandSLC37A4,
(G6Pase)
cause GSDI
alpha-1,4-glucosidase
(acid maltase)
glycogen debranching
enzyme in liver &
skeletal muscles
glycogen branching
enzyme in skeletal
muscles
mutation in GAA
Mutations in
theAGLgene cause
GSDIII
Mutations in
theGBE1gene
cause GSD IV
Mutations in
Muscle phosphorylase /
thePYGMgene
myophosphorylase
cause GSDV
Mutations in
liver glycogen
thePYGLgene cause
phosphorylase
GSDVI
Mutations in
phosphofructokinase
thePFKMgene
cause GSDVII
SYMPTOMS
Symptoms vary based on the enzyme that is missing.
They usually result from the buildup of glycogen or
from not being ableto produce glucose when
needed. Because GSD occurs mainly in muscles and
the liver, those areas show the mostsymptoms.
Symptoms may include:
Poor growth
Muscle cramps
Low blood sugar
A greatly enlarged liver
A swollen belly
Abnormal blood test
TREATMENT
For the types of GSD that can be treated, patients must carefully
follow a special diet.
Frequent high carbohydrate meals during the day. For
some children, eating several small meals rich in sugars and
starches every day helps prevent blood sugar levels from
dropping.
Cornstarch. For some young children, giving uncooked
cornstarch every four to six hours including during overnight
hours also can help keep blood sugar levels from getting low.
A doctor would know how much cornstarch a child would need.
Continuous nighttime feeding. Some children will need a
special feeding tube placed into their stomach in order to
maintain the blood glucose level. The feeding tube is then
used to give formula with a high concentration of glucose. This
helps control the blood sugar level.
Medicine:GSD tends to cause uric acid (a waste product) to
build up in the body. This buildup of uric acid can cause gout
References:
https://ghr.nlm.nih.gov
http://
emedicine.medscape.com/article/1116574-overvi
ew
http://www.cincinnatichildrens.org/health/g/gsd/