Acid- beta glucosidase deficiency is the most common of the lysosomal storage diseases. It is caused by a hereditary deficiency of the enzyme glucocerebrosidase (also known as acid â-glucosidase), leading to an accumulation of its substrate, the fatty substance glucocerebroside. Fatty material can collect in the spleen, liver, kidneys, lungs, brain and bone marrow.

Gaucher’s disease has traditionally been divided into the following 3 clinical subtypes.

 

All 3 types of Gaucher’s disease are inherited as autosomal recessive traits and have an equal sex distribution.

• Type 1 - Nonneuronopathic form
• Type 2 - Acute neuronopathic form
• Type 3 - Chronic neuronopathic form

Type 1 gauchers disease

• The most common form, causes liver and spleen enlargement, pancytopenia, bone pain and broken bones, and, sometimes, lung and kidney problems.
• It does not involve the brain.
• It can occur at any age. It’s more common in Jewish people.

Type 2 gauchers disease

• Which causes severe brain damage, appears in infants.
• Most children who have it die by age 2. Serious convulsions, hypertonia, mental retardation, apnea.
• Muscle twitches known as myoclonus, convulsions, dementia, and ocular muscle apraxia.

• A subset of this type, associated with congenital ichthyosis and hydrops fetalis, is described as neonatal lethal and results in perinatal or in utero death.

Type 3 gauchers disease

There may be liver and spleen enlargement, and signs of brain involvement appear gradually.

Tests and diagnosis

• CBC count
• Ultrasonography
• Enzyme activity testing: Diagnosis can be confirmed through measurement of glucocerebrosidase activity in peripheral blood leukocytes.
• Angiotensin-converting enzyme levels are typically elevated
• MRI may be useful in delineating the degree of marrow infiltration and evaluating spinal involvement.
• Bone marrow aspiration

Treatment

Enzyme replacement therapy (ERT) -Cerezyme

For type 1 and most type 3 patients, enzyme replacement treatment with intravenous recombinant glucocerebrosidase can dramatically decrease liver and spleen size, reduce skeletal abnormalities, and reverse other manifestations.

However, ERT does not currently address conditions or symptoms related to the central nervous system of Types 2 and 3 Gaucher disease.

Substrate reduction therapy

• Migulstat- Glucosylceramide synthase inhibitor
• Indicated for type 1 Gaucher disease in patients in whom ERT is not a therapeutic option
• Reduces spleen and liver volume and increases hemoglobin and platelet counts
  

Symptom management and ongoing care

• Pain reduction therapy

• Blood transfusion

• Antiepileptic
• Othrodesis
• Splenectomy
• Bone marrow transplantation