Neimann Pick Disease Research Paper

Neimann Pick Disease Type C1

What is Neimann Pick Disease Type C1 and how is it Diagnosed?

Neimann Pick Disease Type C1(NPC1) is a rare lipid shortage disorder that can be diagnosed at any point in the individual’s life time(2). It can be passed on recessively from the parent to their offspring. For further evaluation genetic tests can be done on a patient to seek the NPC1 gene that causes the mutation resulting in the lack of cholesterols levels(2). Some of the tests that can be performed are liver and spleen biopsies and cholesterol assay (3).

Symptoms, morbidity and mortality

The symptoms of NPC1 are varied from individual to individual because it can occur at any point. However, some of the symptoms of the disease include neuro-cervical disorders which ultimately affect the lungs, liver, spleen as well as the central and peripheral nervous system (3). These symptoms can result in ataxia, dementia, loss of previously learned speech, seizures and uncontrollable jerks (1,3). If an individual is regularly seen by a health care practitioner the NPC1 gene mutation can be detected early on. Roughly 1 in every 120,000 live birth that will be affected by this gene(3). Children between the ages of 5-15 die and the progression of the symptoms relating to the gene in adults is usually slow(2).

The NPC1 gene is located on chromosome 18 and it causes 334 defects mutation in the gene, as well as additional splicing and deletions (3). As recessive trait, the parent caring the disease can pass it on to their offspring. However, at times an individual has “25% chance of being the carrier, 50% chance of being asymptomatic and 25% chance of being unaffected or not a carrier”(4). Although this disease can affect any individual, it is best to noticed by its