Timeline of Neurological Manifestations of Gaucher Disease

Timeline of Neurological Manifestations of Gaucher Disease

Gaucher's Disease or Gaucher Disease (GD)-- is a genetic disorder in which glucocerebroside (a sphingolipid, also known as glucosylceramide) accumulates in cells and certain organs. The disorder is characterized by bruising, fatigue, anemia, low blood platelet count and enlargement of the liver and spleen, and is caused by a hereditary deficiency of the enzyme glucocerebrosidase (also known as glucosylceramidase), which acts on glucocerebroside.

Gaucher's Disease or Gaucher Disease (GD)-- is a genetic disorder in which glucocerebroside (a sphingolipid, also known as glucosylceramide) accumulates in cells and certain organs. The disorder is characterized by bruising, fatigue, anemia, low blood platelet count and enlargement of the liver and spleen, and is caused by a hereditary deficiency of the enzyme glucocerebrosidase (also known as glucosylceramidase), which acts on glucocerebroside.

National Gaucher Foundation - spreading awareness of Gaucher Disease

Gaucher disease is a genetic disorder and affects the body's organs and tissues. Learn about Gaucher disease symptoms, testing and treatments.

What is Gaucher's Disease.

What is Gaucher's Disease.

Gaucher disease (Gaucher's disease)  As a result of research, development and years of education and outreach, there are thousands of people who have been diagnosed with Gaucher disease. It is the most prevalent Lysosomal Storage Disorder (LSD) in the world and is present in approximately 1 in 20,000 live births.

Gaucher disease (Gaucher's disease) As a result of research, development and years of education and outreach, there are thousands of people who have been diagnosed with Gaucher disease. It is the most prevalent Lysosomal Storage Disorder (LSD) in the world and is present in approximately 1 in 20,000 live births.

Gaucher's Disease or Glucosylceramidase Deficiency

Gaucher's Disease or Glucosylceramidase Deficiency

Tamara Ciocci is living with Gaucher disease. She was diagnosed in 1985 at the age of 21. Here she describes her journey to a diagnosis.

Tamara Ciocci is living with Gaucher disease. She was diagnosed in 1985 at the age of Here she describes her journey to a diagnosis.

Gaucher's Disease macrophages look like crumpled tissue paper.  This is the most common lysosomal storage disease.    Deficient Beta-glucocerebrosidase leads to accumulated glucocerebroside.  Peripheral neuropathy of hands/feet, angiokeratomas, cardiovascular/renal disease.   Autosomal Recessive

Gaucher's disease - Wikipedia, the free encyclopedia. Had a patient with this disorder.

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