Taking a Look at Niemann-Pick Disease

In some cases there are very mild symptoms or no symptoms at all . Parents and children can get disease without realizing it before.

Some symptoms that can also occur in some patients are nausea, vomiting, and diarrhea. The previously mentioned symptoms are fairly common with many different disorders however some of the most defining symptoms of Addison’s disease are low blood pressure that drops when standing, and skin changes or hyperpigmentation that is most visible on areas of the body such as scars, knees, elbows, knuckles, lips, and skin folds. Patients can also suffer from depression, irritability, and a craving for salt, and amenorrhea in female patients.

One of these symptoms is jaundice, which is characterized by yellowish skin and eyes because of an inability of the liver to remove bilirubin from the blood. Patient with cirrhosis also suffering from itching, due to deposited bile's products in the skin. This patient also suffers from accumulation of fluid in legs that is called edema. As a result of the blockage of blood flow via the liver, fluid accumulation in abdomen which is worsen by the decrease in protein production. Other symptoms include fatigue, weakness, loss of appetite, weight loss and nausea. As the disease progress, complications may develop ,such as varices that happens with cirrhosis patient when the blood flow through the liver slows, so the blood from intestine go back to the vessels of the stomach and esophagus, these vessels are not meant to carry this much of blood so they dilate (varices), with increasing

Tay-Sachs disease is an autosomal fatal genetic disorder, it is also a form of lipid metabolism disorder. Due to a buildup of fatty substances in

Pick 's disease is one type of fronto-temporal dementia characterized by abnormal and swollen nerve cells that later die. The brains of individuals suffering from this disorder show presence of abnormal Pick bodies which contain tau protein. Exact cause of Pick 's disease is unknown but it is believed that some genes may be associated with it. The symptoms

INTRODUCTION: Stickler syndrome was first reported in the medical genetics in 1965 by Gumnar Stickler et.Al who called the disease

Niemann-pick disease is a developmental disorder in which sphingomyelin accumulates in lysosomes in cells. These lysosomes are normally used to transport material through the cell. However, the disorder involves a dysfunctional metabolism of sphingolipids. Niemann- pick is divided into three different types; A, B, and C. Types A and B occur when cells in the body do not have an enzyme called acid sphingomyelinase (ASM). This enzyme helps break down a fatty substance called sphingomyelin, which is found in every cell in the body. Since the Acid Sphingomyelinase enzyme is dysfunctional, sphingomyelin usually builds up in the cells and in turn kills the cells by making it harder for the organs to work properly. For the third type of Niemann-pick, type C, occurs when the body cannot break

For the genetic abnormality at the root of this disease, it is an X-linked inborn error of the glycosphingolipid metabolic pathway. Typically it is an X linked inheritance pattern that is neither recessive or dominant, and is x linked in this family history as well. The metabolic defect is in in the lysosomal hydrolase alpha-galactosidase A (alpha-Gal A), which catalyzes the hydrolytic cleavage of the terminal galactose from globotriaosylceramide (Gb3). This results in accumulation of globotriaosylceramide within lysosomes in cells, in the vascular

     The course that this disease takes is highly unpredictable in the first few years. This disease can be mild with few symptoms or it can be serious affecting the child’s life on a daily basis. Symptoms can worsen and disappear without clear reason. Sometimes a pattern for the acute and remission phases can be established, but not always.

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

Fabry disease is a condition caused by a genetic mutation. It is passed down (inherited) from a parent who carries the gene mutation for Fabry disease. The gene mutation changes an enzyme that breaks down a certain type of lipid, called globotriaosylceramide, and prevents it from breaking down the lipid. This causes excess lipids to build up in cells in certain organs of the body and the nervous system.

SCD Signs and symptoms often don't appear until an infant is at least four months old and may include several indications. First, Anemia sickle cells are weak. They die and split up easily, leaving you without a great supply of red blood cells. The major symptoms of SCD are Episodes of pain which occur at chest, abdomen, joints and bones. The pain might differ in intensity and can last for a couple hours to a couple weeks. Moreover, Hand-foot syndrome with swollen hands and feet might be the first indications of SCD in babies. Some people faced vision troubles because the small blood vessels that supply your eyes might stop and this can destroy the retina — the part of the eye that handle visual pictures.

Gaucher’s Disease is a disease that encompasses many different organs and tissues in the body. The damage that occurs in the hepatic, spleen, bone, and other tissues has one underlying connection. This connection is a monocytes ability to break down the cellular membrane glycolipid, glucocerebroside. A person’s somatic cells, more specifically monocytes, have a genetic defect where they are unable to produce adequate glucocerebrosidase, the only enzyme is able to degrade this substance. Monocytes phagocytize this molecule, as it is a common component of cellular debris. The levels of this glycolipid increase, and the monocyte’s size increases as well. A typical result of this disease is an extreme increase liver

Gaucher’s disease which is also identified as glucocererbrosidase deficiency, this happens when the lipid, glucosylceramide, builds up in bone marrow, lungs, spleen, liver and sometimes the brain. It’s a hereditary disease. When the lipid as mentioned earlier is faulty glucosylceramide accumulates more commonly in the microphages which is a type of white blood cell.

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.