Gaucher disease is a rare, heritable lysosomal storage disorder caused by mutations in a gene called GBA. This gene encodes for a digestive enzyme active in lysosomes, cell structures that act as recycling centers to break down worn-out components of cell membranes. The mutation causes the enzyme to be less active at recycling these waste products. As they accumulate, these waste products poison cells and cause the symptoms of Gaucher disease. Several types of Gaucher disease have been described.

Type 2 Gaucher disease, also called acute infantile neuronopathic Gaucher disease, is a rare form that has the earliest onset of symptoms. It is considered neuropathic because it is characterized by problems affecting the central nervous system, caused by the failure of the enzyme glucocerebrosidase to prevent the buildup of a substance called glucocerebroside in the brain and other organs.

Symptoms

Type 2 Gaucher patients begin to show disease symptoms in the first 3 to 6 months of life, and often die before age 2. The primary symptom is early and severe brain damage that progressively worsens. Other evident symptoms include poor development, seizures, spasms (jerky movements), an inability to suck or swallow normally, and an enlarged liver and spleen.

Severe skin abnormalities may also be seen in babies with type 2 Gaucher, and some may die before birth (stillborn infant). The bone involvement seen in adult forms of Gaucher is unlikely, because of these children’s short lifespan.

Diagnosis

Type 2 Gaucher disease is diagnosed based on symptoms, with the diagnosis is confirmed through genetic testing looking for mutations in the GBA gene. Type 2 Gaucher can be difficult to distinguish from types 1 or 3 based solely on enzyme activity or gene mutation, though a total absence of the GBA enzyme is associated with severe disease and an early death.

While not recommended as a primary means of diagnosis, a biopsy — where a needle is used to collect a small sample of the skin, liver, bone marrow, or spleen — can be used to confirm Gaucher disease based on the abnormalities present in cells viewed under a microscope.

Treatment

Currently, no approved therapies for type 2 and type 3 Gaucher disease, and treatment is targeted toward managing disease symptoms to make patients as comfortable as possible.

Enzyme replacement therapy, often used to treat type 1 Gaucher and sometimes type 3 by raising levels of the damaged or missing enzyme, is rarely effective in type 2 babies.

For those with seizures, anticonvulsants may be prescribed. For movement problems, patients may benefit from physical therapy. Parents may need to meet with a dietitian and speech therapist to help infants with difficulty in suckling or swallowing.

As the disease progresses, these children may have difficulty keeping their airway open, which can lead to choking or difficulty breathing, so close monitoring is crucial.

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Gaucher Disease News Today is strictly a news and information website about the disease. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or another qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.

Emily holds a Ph.D. in Biochemistry from the University of Iowa and is currently a postdoctoral scholar at the University of Wisconsin-Madison. She graduated with a Masters in Chemistry from the Georgia Institute of Technology and holds a Bachelors in Biology and Chemistry from the University of Central Arkansas. Emily is passionate about science communication, and, in her free time, writes and illustrates children’s stories.
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Emily holds a Ph.D. in Biochemistry from the University of Iowa and is currently a postdoctoral scholar at the University of Wisconsin-Madison. She graduated with a Masters in Chemistry from the Georgia Institute of Technology and holds a Bachelors in Biology and Chemistry from the University of Central Arkansas. Emily is passionate about science communication, and, in her free time, writes and illustrates children’s stories.
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