5/29/2018 0 Comments Types of Gaucher DiseaseA highly respected endocrinologist, Victor L. Roberts, MD, has earned listing in Who's Who in Medicine and Healthcare as well as Who's Who in America. Victor L. Roberts, MD, applies his expertise as president, CEO, and physician at Endocrine Associates of Florida, where he treats a variety of metabolic disorders. Metabolic disorders may come in a variety of forms, one of which is the lysomal storage disorder. These affect structures known as lysosomes, a cell body responsible for the breakdown of metabolic waste products. If these structures do not function properly, toxins can build up and cause damage in various body systems. In cases of Gaucher disease, for example, the body lacks the enzyme it needs to properly break down a certain type of fat. This fat then builds up in the bone marrow, liver, and spleen. In the Western world, most cases of Gaucher disease can be classified as type 1, which may be asymptomatic but may also result in bone, blood, and organ abnormalities. Common symptoms include spleen and liver enlargement, low blood counts, and bone pain. The disease is treatable and involves no neurological abnormalities. Type 2 Gaucher disease, also known as acute infantile neuronopathic Gaucher disease, does involve serious neurological symptoms. As its name indicates, it typically develops in babies and toddlers, who usually do not live past the age of 2. Infants with the condition present with slow horizontal eye movement, seizures, and an overall failure to thrive. Type 3 Gaucher disease also affects the nervous system and causes similar symptoms, but it develops later in childhood. It may also have a better prognosis as compared to the type 2 form, depending on symptom set. Non-neurological symptoms of type 3 may be treatable, although no medicine can yet address the neurological symptoms of types 2 and 3 of the disease, as the blood-brain barrier blocks enzyme replacement medications.
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AuthorDr. Victor Roberts Archives
September 2021
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