Niemann Pick Disease

Procedures such as amniocentesis and chorionic villus sampling (CVS) represent the standard diagnostic methods used by clinicians to screen fetuses for abnormalities or genetic disease such as Down syndrome. In amniocentesis, a needle is inserted into the amniotic sac of the mother and a small sample of amniotic fluid is obtained. Fetal tissue is contained within the amniotic fluid and is subsequently analyzed genetically and cytogenetically for abnormalities. In the case of CVS, a sample of placental tissue is obtained through the mother’s cervix for downstream genetic analysis as in the case of amniocentesis (CDC,

The Merck Manual (2013) highlights the serum lipid profile as the most common diagnostic tool to identify hyperlipidaemia. This measures the total cholesterol, triglycerides, HDLs, LDLs and VLDLs. However, the test should be conducted after the illness has been treated because triglycerides, lipoproteins and cholesterol may be lower due to the body being in an inflammatory state. If there are high LDL levels, lipoprotein(a) and C-reactive protein levels can also be measured in the blood. Those with high triglyceride levels may also have LDL particle number or apoprotein B-100 measurements taken.

"Children with Tac-Sachs disease often die by 4 despite the provision of best available care. Their seizures worsen, and eventually fall into an unresponsive vegetative state.

There are two types of diseases, infectious and genetic. Unlike infectious diseases that are caused by organisms such as bacteria, genetic disorders are caused by mutations in an organism’s DNA. Cystic Fibrosis is a genetic disorder that is recessive autosomal and causes the creation of thick and sticky mucus. Because the disorder is recessive there must be two recessive alleles present for the trait to be expressed. Whereas in dominant disorders only one dominant allele needs to be present to express a disorder. For there to be two recessive alleles, both of the parents must be homozygous recessive or heterozygous for the offspring to express the recessive trait. If the offspring is heterozygous they will become carriers of the disorder and

The NF1 gene has been sited to the long arm of chromosome 17; more than 250 mutations leading to protein truncation having been detected in affected individuals.

cases early childhood. It causes weakness of the face and shoulders and upper arm sometimes it shows difficulty of closing the eyes. Distal affects men and women symptoms are affecting the muscles of the arms, legs, and the feet. Symptoms usually comes between forty and sixty.

by sampling the amniotic fluid, which contains cells and chemicals which are fetal in origin.”(4) This

The skin cells are tested for any signs of precancerous disease or any abnormalities. CHOLESTEROL: This test should be done every one to five years in healthy adults, those who already have heart disease or other cardiac issues will probably have these tests done routinely. A cholesterol test (or screening) is a grouping to tests that check your cholesterol and lipid levels in the blood. It is done with a simple blood sample taken in your physician's office or hospital lab.

Niemann-Pick disease an inherited condition involving lipid metabolism, which is the breakdown, transport, and use of fats and cholesterol in the body is the condition in which abnormal lipid metabolism causes harmful amounts of lipid to accumulate in parts of the body. There are 3 forms of this disease: Type A, B, and C. The general focus of this paper will be Type C.

A genetic disorder, such as DiGeorge syndrome, is an illness caused by one or more abnormalities, which can be passed down through parents, DNA, or mutations. DiGeorge syndrome (DGS) is a rare type of a genetic disorder which is caused by the deletion of chromosome 22. DiGeorge syndrome affects many parts of the body and has a prevalence of 1: 4000

NPC disease is a rare disease that caused by NPC1 or NPC2 protein gene mutation. Both NPC1 and NPC2 are transportation proteins on cell surface for glycosphingolipids and cholesterol respectively. The symptom of the disease varies among different individuals. Affected individuals could have enlarged organs or lung disease because of the accumulation of cholesterol and lipids. Moreover, children with NPC disease often result in progressive neurological problems that lead to disability or premature death.

who was diagnosed with Niemann Pick Disease, type C in 2010. She is currently enrolled in a treatment trial at NIH and presented for a follow-up assessment as part of the trial. See other medical reports for a more detailed medical history and current medications.

There are three ways that a mother can be tested during pregnancy to see if their child will have Down syndrome. One is amniocentesis, which is the removal and analysis of a small sample of fetal cells from the amniotic fluid. Amniocentesis can not be done until the 14-18th week of pregnancy and with this process there is a lower risk of miscarriage than with the other two processes. Another process is chorionic villus sampling (CVS), which is the extraction of a tiny amount of fetal tissue at 9 to 11 weeks of pregnancy. The tissue is then tested for the presence of extra material from chromosome 21. Chorionic villus sampling has a 1-2% chance of the mother having a miscarriage. The last process is percutaneous umbilical blood sampling (PUBS), which is the most accurate method used to confirm the results of CVS or amniocentesis. During PUBS the tissue is tested for the presence of extra material from chromosome 21. PUBS cannot be done until the 18-22nd week and it carries a high risk of the mother having a miscarriage.

Niemann Pick disease consists of a group of genetic disorders in which the common feature is a varying degree of sphingomyelin storage in certain tissues of the body. According to the current classification based on the enzymatic defect underlying these disorders, two main groups are distinguished. The first group, which comprises type A, which is characterized by a severe deficiency in acid sphingomyelinase activity, includes infantile neuronopathic form; and type B, an adult chronic form without neurologic symptoms. In the second heterogeneous group called type C, neuro-visceral involvement is massive and lipid metabolism is affected.

The next technique routinely performed for prenatal diagnosis is amniocentesis. A long needle is inserted into the mother’s uterus to withdraw a sample of amniotic fluid containing cells shed by the fetus. The cells are cultured and analyzed for chromosome abnormalities. Despite the lengthy time in obtaining results because the cells need to be cultured, this method has become widely accepted as a safe and accurate way to determine genetic disorders.