short discribtion for von gierks disease

1. Von Gierk’s Disease

2. Definition
• a glycogen storage disease that is caused by a deficiency of glucose-6-
phosphate and has a clinical onset at birth or during infancy, that is
characterized especially by enlargement of the liver and kidney,
hypoglycemia, hyperlipidemia, hyperuricemia, acidosis, adiposity, and
this is inherited

3. Mechanism of the disease
• Inherited deficiency of Glucose 6 phosphatase enzyme
• glucose 6 phosphatase in the normal used in gluconeogenesis and
glycogenolysis :
• Glucose 6 phosphate free glucose
During fasting state in the last step
• So Over loading the liver with glycogen

4. LDH
Acetyl Co .A
Faty acid synthesis
PDH
Ketone bodies synthesis
lactic acidosis
Severe hypoglycemia in blood pyruvic
Free glucose accumulation to lactic acid by Allosteric inhibitionribose 5 phosphate
Increase synthesis
of purines in liver
Increase catabolism of purines
Increase production
of Uric acid
Glycogen
Glucose 6 phosphate
Ketoacidosis
Gout arthritis Hyperlipidemia

5. Blood
glucose
Blood ph
Blood
coagulation
test
Complete
blood
count
Serum
electrolyt
e
Urine
albumine
Kidney
function
test
Diagnosis:

6. Imaging: Ultrasound imaging of the abdomen to
investigate the enlarged liver (hepatomegaly), and
assess the kidney for complications. In females,
ultrasound may reveal polycystic ovaries.
Definitive diagnosis of Von Gierke Disease is by liver
biopsy (examination of liver tissue), and assay of
enzyme (glucose-6-phosphatase) activity
Gene testing, a recently available test that can detect
mutations, provides a non-invasive technique for
definitive diagnosis.
Notice
liver
biopsy

8. Treatment
• The main aim of treatment is to correct hypoglycemia and maintain
normoglycemia
• Drugs
• Blood loss may require oral iron.
• Raised uric acid levels may require allopurinol
• Surgery
• Liver transplantation for primary disease or for hepatocellular
carcinoma:
• Liver transplantation improves metabolic control.[4]

9. Created and Edited by
Dr. nouran AlaaAldin