Abstract
CLASSIFICATION, CHARACTERIZATION, TREATMENT, CARRIER DETECTION AND GENETIC BASIS OF NEIMAN-PICK DISEASE
Sikander Ali*, Maryam Mumtaz and Ayesha Imran
ABSTRACT
Neiman-Pick disease is a metabolic disorder associated with neurodegenerative symptoms. It is an abnormality of lysosomes resulting in disabling neurological manifestations and in most of the cases premature death. Treatment is dependent on the type of disease. This review will provide and information about history, treatment, prognosis, genetic factors of the disease and a statistical review of case report of nine patients of Neiman-pick disease. It is an atypical lysosomal disorder. Mutations in NPC genes are responsible for causing this disease. These days, Pharmacological treatments are being used to lower blood cholesterol level and prevent symptoms of NP disease. Most recent therapy is stem-cell based therapy. The most interesting feature of this disease is the accumulation of specific cells called NP cells in the viscera.
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