Niemann Pick Disease Essay

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Niemann Pick Disease

Niemann-Pick Disease is an autosomal recessive disease, passed down through carrier parents, where lipids gather in the cells of the spleen, liver, and brain creating an obstruction. There are four known forms of the disease, Type A, Type B, Type C, and Type D, in which Type A and B compose Type I and Type C and D make up Type II. Type A and B are a response to the lack of the enzyme acid sphingomyelinase(ASM) which metabolizes sphingomyelin. When there is an absence of sphingomyelinase the excess build up of sphingomyelin kills multiple cells stopping organ function. Symptoms of Type A include: abdominal swelling, redness in the eye, feeding difficulties, and loss of motor skills. Type A is the more severe of situations, not offering …show more content…

If Type C symptoms are present before the age of 1 it is not likely that the child will live to be five, if symptoms arise during the school age it is possible that the child lives into their late teens, and in some cases into their twenties. Type D is a variant of Type C, and is caused by a mutation in the NPC2 gene, creating, an abnormality in the interaction between cholesterol and brain cells. Type C is often noticed affecting Puerto Ricans, while Type D is frequently observed to affect French Canadians. Type II is most commonly diagnosed with a skin biopsy, in which skin cells would be observed while in the process of moving and storing cholesterol. In Addition, other tests that may be performed are: bone marrow aspiration, a liver biopsy, slit-lamp eye exam, and sphingomyelinase assays. Miglustat has been given as treatment for Type C patients to decelerate the nervous system symptoms, but there is no treatment yet for Type D. Due to the mutations in DNA of Type C it is probable that a fetus could be diagnosed while in the womb in specialized centers. Since both parents are carriers of this gene mutation, there is a 25% chance their child will have this disease, and a 50% chance the

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