This is a brief description of Von Gierke's Disease Type 1 A

1. HERMAN NDJAMEN
GROUP 205

2. • GENERAL INTRODUCTION
• HISTORY
• CAUSES OF DISEASE
• SIGNS AND SYMPTOMS
• LABORATORY DIAGNOSIS
• TREATMENT
• END.

3. Glycogen storage disorders are classified according to
which enzyme is lacking or not working normally and
also which part of the body is affected by the disease.
Glycogen storage disorders mostly tend to affect liver and
muscles. However, some glycogen storage disorders
can affect other parts of the body such as the kidney,
heart, blood vessels, nervous system and bowel .The
different types of glycogen storage disorder include:

4. Type Ia (von Gierke's disease), type Ib, type Ic, type Id.
Type II (Pompe's disease).
Type III (Forbes-Cori disease).
Type IV (Andersen's disease).
Type V (McArdle's disease).
Type VI (Hers' disease).
Type VII (Tarui's disease).
Type IX (liver phosphorylase kinase deficiency).
Type XI (Fanconi-Bickel syndrome).
Type 0 (Lewis' disease).
Type I glycogen storage disorder is the most common.
About one quarter of people who have glycogen storage
disorder have type I. Type VIII and type X are now
classified with type VI.

5. Background
In 1929, von Gierke provided the initial
description of glycogen-storage disease
type I (GSD I) from autopsy reports of
2 children whose large livers contained
excessive glycogen. He also reported
similar findings in the kidneys.
Both children had frequent nosebleeds
before their deaths, consistent with
histories documented in current patients.

6. In 1952, Cori and Cori reported 6 similar
patients. Two of the patients had almost total
deficiency of hepatic glucose-6-
phosphatase, whereas the remaining 4 had
normal enzyme activity.
These authors recognized that defects in the
enzymology of hepatic glycogen-storage
disease may cause a heterogeneous group
of disorders.

7. However, the mystery of patients with these
clinical symptoms (despite normal
phosphatase activity) remained unsolved
until 1978, when Narisawa et al identified a
defect in intracellular transport of the
enzyme substrate.

8. Glycogen-storage disease Ia is
caused by deficient activity of the
enzyme glucose-6-phosphatase,
representing at least 14 distinct
allelic variants.

9. •
• Glucose-6-phosphatase in the liver and kidney catalyzes
the hydrolysis of glucose6phosphate to glucose during
glycogenolysis.

11. • Glycogen accumulation in liver and renal tubule
cells(hepatomegaly & renomegaly)
• hypoglycemia;
• lactic acidemia;
• ketosis;
• hyperlipemia

12. • Some of the tests include: Blood glucose, blood pH (to
measure acidity), kidney function tests, complete blood
count (to find anaemia, low neutrophil counts etc.), serum
electrolytes, urine albumin, liver function tests (liver
enzymes are usually normal), blood coagulation profile,
cholesterol levels, and bone density measurement.

13. • 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.

14. • Patient’s diet should be followed-up by a nutritionist to
provide adequate calories, carbohydrate and proteins for
growth. This is because the main aim is to avoid low
blood glucose level.

15. THANK YOU