GOUCHER’S DISEASE

PRESENTED BY
AMNA TABBASSUM
KANEEZ FATIMA
AREEBA FARYAD
HAVE U EVER
HEARD OF
GOUCHER’S
DISAESE??
Gaucher’s disease
• It is an autosomal recessive disorder of metabolism due to the lack of glucocerebrosidase also

known as acid ẞ-glucocerebrosidase, a lysosomal enzyme which catalyzes glycolipid

glucocerebroside hydrolysis to ceramide and glucose.

• It is a lysosomal storage disease.

• It was discovered by Phillip Charles, in 1880s.

• . It results from the functional deficiency of the
lysosomal enzyme β-glucocerebrosidase. which, in
most instances, is associated with mutations in the
GBA1 gene located on chromosome 1 (1q21).
• The deficient enzyme activity leads to the
accumulation of its substrate glucosylceramide,
mainly in tissue macrophages, transforming them into
the characteristic Gaucher cells(crumpled tissue
paper appearance).
  Also known as glucosylceramide

What is actually
 Major component of plasma membrane

 Composed of fatty acid chain, sphingosine and glucose moiety.

glucocerebroside?  Abundant in brain.

 Intermediatory compound of lipid metabolism.

 Synthesized in Golgi Apparatus.

 Catabolized in lysosomes of macrophages.

 Functions: cell membrane structure, cell signaling.

Getting Started with a Presentation

Getting Started with a Presentation
Statistics of Gaucher’s disease:
 More frequent among people of Ashkenazi Jewish ancestry.

 About 1 in 14 Ashkenazi Jews is carrier.

 6000 people detected in 2022 in USA.

 Gaucher disease (GD) is one of the most common lysosomal storage disorders with an estimated

incidence of 40,000-60,000 in the general population with the highest frequency seen among the

Ashkenazi Jewish population

 TYPE 1 TYPE 2 TYPE 3

 non-neuronopathic  Acute neuronopathic with early onset and

 chronic neuronopathic phenotype with slower
rapid neurological deterioration
 onset ranges from childhood to progressing neurological features
 onset during early infancy that is typically
adulthood  It typically has a later onset compared with
fatal within 2 years.
type 2, and patients may survive into
Signs and symptoms: Signs and symptoms:
adulthood.
• Spleen and liver enlargement • visceral organs problems
Signs and symptoms:
• Low blood counts • neurological effects such as seizures
• Same as of type 2
 The central nervous system problems of
• Bleeding problems  No effective treatment
type 2 are not treatable.
• Bone pain
 This form of the disease is treatable.
 Symptoms:
1. Hepatomegaly (Enlarged Liver):
In Gaucher's disease, the liver can become enlarged due to the
accumulation of glucocerebroside.
2. Splenomegaly (Enlarged Spleen):
The spleen is often enlarged in individuals with Gaucher's disease,
leading to abdominal discomfort.
3. Anemia:
Gaucher's disease can cause a shortage of red blood cells, leading
to anemia. Symptoms may include fatigue, weakness, and pallor.
4. Thrombocytopenia (Low Platelet Count):
Individuals with Gaucher's disease may have a reduced number
of platelets, increasing the risk of bleeding and easy bruising.
5. Bone Abnormalities:
Accumulation of glucocerebroside in bone tissue can lead to
various bone problems, including bone pain, fractures, and skeletal
disorders..
 Symptoms:

6. Easy Bruising and Bleeding:

Due to low platelet count, individuals with Gaucher's disease may
experience easy bruising and an increased tendency to bleed.
7. Fatigue:
Anemia and the overall impact of the disease on organ function can
contribute to persistent fatigue.
8. Bone Pain:
Accumulation of glucocerebroside in bone tissue can cause pain and
discomfort.
9. Delayed Growth (in Children):
Children with Gaucher's disease may experience delayed growth and
development.
10.Neurological Complications (in Types 2 and 3):
In Types 2 and 3 Gaucher's disease, individuals may experience
neurological symptoms, including developmental regression, seizures,
muscle rigidity, and cognitive decline.
Clinical Blood test
symptoms (activity level of
.
enzyme)
.
Diagnostics:

GBA gene DNA Bone marrow or

analysis liver biopsy
.
 Treatment:
Substrate Enzyme
Reduction Replacement .

Therapy
THANK YOU