Niemann-Pick disease is a raregenetic medical condition.
Causes
The cause of Niemann-Pick disease is relatively complicated.
Types
The different types of Niemann-Pick disease differ from each other in several ways.
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What they all have in common is that they are all genetic defects that result in excessive sphingomyelin.
It is also one of the variants that involves thenervous system.
These signs do not confirm the diagnosis, however.
Acid Sphingomyelinase is expected to be decreased, and this level can be measured in the white blood cells.
There is also a genetic test that can identify the gene abnormally.
Unfortunately, children with this disease are not expected to survive beyond age 3 or 4.
Cause
Niemann-Pick jot down A is triggered by an irregularity of a gene called the SMPD1 gene.
People of Ashkenazi Jewish descent have a higher chance of inheriting this condition.
It is resulting from the same jot down of genetic abnormality, which results in sphingomyelinase deficiency.
The symptoms begin during adulthood and can include a largeliver, a largespleen, breathing difficulties, and bleeding.
Older adults typically have a better outcome and longer survival than younger adults who have this disease variant.
Blood levels ofcholesterol and triglyceridesmay be elevated.
Some people who have Niemann-Pick throw in B may have a cherry-red spot on examination of the eye.
There are several treatments for Niemann-Pick key in B, but they do not cure the disease.
These include blood and platelet transfusions and breathing assistance.
Some patients may benefit from Xenpozyme (Olipudase alfa).
All of the types of Niemann-Pick disease are autosomal recessive, including punch in B.
The symptoms of Niemann-Pick jot down C can begin at any age but generally start in early childhood.
The symptoms include learning delay, muscle weakness, and decreased coordination.
These problems begin after the skills had already been developing normally for a few years.
A genetic test can identify defects in the NPC1 and NPC2 genes.
Neimann-Pick punch in C is a bit different from types A and B.
There is a shortage of proteins that are associated with the transfer and processing of sphingomyelin.
Replacement of the deficient enzyme has been studied.
At the current time, this bang out of therapy is only available by enrollment in a clinical trial.
It is very stressful for the whole family when such a serious illness becomes a part of your life.
Food and Drug Administration.Aqneursa label.
