INFANTILE GAUCHER DISEASE Meaning and
Definition
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Infantile Gaucher Disease, also known as Type 2 Gaucher Disease, is a rare and severe genetic disorder characterized by a deficiency or malfunction of an enzyme called glucocerebrosidase. This enzyme is responsible for breaking down a substance called glucocerebroside. When the enzyme is deficient or doesn't function properly, glucocerebroside builds up in various organs and tissues, leading to a wide range of symptoms.
Infantile Gaucher Disease typically manifests in the first months of life and progresses rapidly. It primarily affects the central nervous system, causing neurological deterioration and developmental regression. Infants with this condition may experience seizures, swallowing difficulties, muscle stiffness, reduced muscle tone, and cognitive impairment. Additionally, enlargement of the liver and spleen (hepatosplenomegaly) is a common symptom.
The disease is inherited in an autosomal recessive manner, meaning that both parents must carry a mutated gene for the condition to affect their child. It is more prevalent in certain ethnic populations, including Ashkenazi Jews.
Infantile Gaucher Disease is a life-threatening condition and has no cure. Treatment options focus on managing symptoms and improving the quality of life. These may include enzyme replacement therapy, which involves regular infusions of an artificial form of the deficient enzyme, and supportive care to address specific symptoms such as seizures and feeding difficulties. With appropriate treatment and management, the life expectancy for infants with this disease has improved, although the outcome remains generally poor.
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