Guide To Metabolic Disorders

Niemann-Pick Disease

Niemann-Pick disease is a condition where certain fats are not stored or removed from the body, resulting in numerous symptoms that affect the function of the liver, brain, spleen, and bone marrow. There are four different types of Niemann-Pick disease. Types A and B are the results of an improper production of acid sphingomyelinase or the enzyme that removes lipids from the cells in the body. The lipid that builds up in the tissues of those affected by types A and B Niemann-Pick disease is called sphingomyelin. Type C Niemann-pick disease is caused by a deficiency of the production of proteins that move large fat molecules between cells, allowing them to build in the cells. The exact pathophysiology of type C Niemann-pick disease is not known due to its rarity, but it is known to be associated with too much sphingomyelin accumulation in the spleen, liver, and bone marrow. Diagnosis of Niemann-Pick syndrome types A, B, and E are made with blood tests and bone marrow biopsy. Type C Niemann-Pick disease is diagnosed with blood tests and skin biopsy. Treatment of Niemann-Pick disease is mostly supportive, as most cases are fatal before the patient reaches early to mid-adulthood.

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