Niemann-Pick Disease is one of a group of lysosomal storage diseases that affect metabolism and that are caused by genetic mutations. The three most commonly recognized forms are Niemann-Pick Types A and B (ASMD or Acid Sphingomyelinase Deficiency) and Niemann-Pick Disease Type C (NPC).Niemann-Pick disease types A and B occur when cells in the body do not have an enzyme called acid sphingomyelinase (ASM). Type A occurs in all races and ethnicities. It is more common in the Ashkenazi (Eastern European) Jewish population. Type C occurs when the body cannot properly break down cholesterol and other fats (lipids). This leads to too much cholesterol in the liver and spleen and too much of other lipids in the brain. Type C is most common among Puerto Ricans of Spanish descent. Type D involves a defect that interferes with how cholesterol moves between brain cells. It is a variant of type C. It causes Abdominal (belly area) swelling within 3 to 6 months, Seizures, Unsteady gait, clumsiness, walking problems, Difficulty moving limbs, Jaundice at birth.
No specific treatment is known for type A, but symptoms are treated. In adult patients with type B, physicians try to keep cholesterol levels down to normal levels. If statins are used, they monitor liver function. If the spleen is enlarged and platelet levels low, acute episodes of bleeding may require transfusions of blood products. If they have symptoms of interstitial lung disease, they may need oxygen. Anecdotally, organ transplant has been attempted with limited success. Future prospects include enzyme replacement and gene therapy. Bone marrow transplant has been tried for type B.Results of a survey shows the extrapolation of Prevalence Rate of Niemann-Pick disease type C2 in Singapore is 29.Australian scientists investigating a rare neurological disorder known as childhood Alzheimer's believe their research could lead to a new treatment for some dementia sufferers.