Sandhoff disease is an uncommon hereditary condition that—along with several other disorders—was previously known as amaurotic idiocy. Sandhoff disease destroys nerve cells (neurons) in the brain and spinal cord little by little over time. The disease is described as the buildup of lipid-containing cells in the internal organs and in the nervous system, mental retardation, and loss of sight. It is one of over 50 hereditarily inherited conditions identified as Lysosomal Storage Diseases The disease was
intracellular fluid, which in turn is alkaline with a high pH level. Fortunately the lysosomes have a surrounding membrane that protects any damage to the cells cytosol. There are well over 50 known diseases associated with lysosome dysfunctions, such as Gaucher disease, Tay Sachs disease, Pompe disease, beta-galactosidase deficiency. Including many in which lysosomes cannot break down material that enters the cell therefore retaining it rather than disintegrating them, there are others where the lysosom
Fabry disease affects every 1 in 40,000 -60,000 males. It occurs less frequently in females. In general population is 1 in 117,000 people. It affects all ethnicity groups. Fabry disease is a rare hereditary disorder that’s from buildup glycolipids called GL-3 in the body’s cells, tissue, or other organs. The damage to the cells, tissues, or organs can cause a wide range of mild to severe symptoms that can be life threatening. Signs and symptoms’ may be noticed in childhood or adolescence. Many patients
The Hereditary Disease of Tay-Sachs Disease Tay-Sachs disease is a rare hereditary disease found mainly in infants but is also found in juveniles and adults. It is caused by the abnormal metabolism of fats and is characterized by mental deterioration, blindness, and paralysis. There is no available treatment for this disease. The ethnic group of Ashkenazi Jews, is very tightly knit. Their religion teaches them to remain among their own small group. Ashkenazi Jews rarely marry outside of their
Introduction: Glycogen storage disease is the result of a defect in the synthesis or breakdown of glycogen that is found in muscles, the liver and many other cell types. This disease may be genetic or acquired and is usually caused by a defect in certain enzymes that are important in the metabolism of glycogen. To date, there are 11 different classifications for glycogen storage disease but this paper will focus on glycogen storage disease type 1 (GSD I), also known as von Gierke’s disease, after the German
Glycogen Storage Disorder There are many different things that can go wrong in our bodies. A metabolic disorder can be one. There are many different kinds that maybe deadly if left untreated and others can be treated but still left to deal with for the rest of one's life. One disorder can be glycogen storage disorder this can affect many different age groups from new born to the elderly. It deals with the function of the body to obtain its greatest source from which it obtains energy from. It deals
Niemann: Pick's Disease 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
genetic disorder. In its most common variant, known as infantile Tay–Sachs disease, it causes a relentless deterioration of mental and physical abilities that commences around six months of age and usually results in death by the age of four.It is caused by a genetic defect in a single gene with one defective copy of that gene inherited from each parent.Research in the late 20th century demonstrated that Tay–Sachs disease is caused by a genetic mutation on the HEXA gene on chromosome 15. A large
initiating ceramide signaling (Perrotta et al., 2010). ASM was initially recognized as a cation-independent hydrolase involved in the catabolism of SM in lysosomes (Horinouchi et al., 1995).Now there are two types of acid sphingomylinase. First is the lysosomal acid sphingomylinase(L-ASM) which has a major role in the production of ceramide as a response of the cell to stress such as infection, environmental insults, ligation of death receptors, and exposure to chemotherapy drugs. The transferring L-ASM
The Identification of Tay Sachs Disease Tay Sachs Disease is a lysosomal storage disease that was first uncovered over a century ago. Since the defective enzyme was originally identified in 1969, we are now capable of providing numerous tests and screening methods to those that may be at risk for TSD. While anyone can undergo TSD screening, it is primarily geared toward the high risk Ashkenazi Jew population. Testing was originally accomplished in the 1970s by measuring the activity of HexA in a
1.1 Non-coding RNAs The central dogma of molecular biology states that genetic information is conveyed from DNA to mRNA to protein implying that proteins are the main functional genetic output (Crick 1970). Even those few early known non-protein-coding RNAs (ncRNAs) such as transfer RNA, ribosomal RNA, snoRNAs and splicosomal RNAs were in the end required for mRNA processing and translation. The dogma might still be applicable to prokaryotes whose genome consists of approx. 90 % protein-coding
and deliver enough blood to meet the body's needs. Although coronary heart disease (CHD) is the most common cause, for example, myocardial infarction, and many of the conditions are intertwined, there are several other causes of heart failure including cardiomyopathies, hypertension and valve disease. Cardiomyopathies can be caused by genetic disorders/defects, viral illness, some endocrine conditions, autoimmune diseases, and excessive use of alcohol and drugs. Pharmacology treatment of diagnosed
An idea first brought to the attention of the world back in the 1960’s when researchers first noted that the cell could destroy its own contents by a matter of enclosure within the membrane. (1) This lead to the formation of vesicles that were efficiently transported to a recycling component called the lysosome, for degradation. The term autophagy simply means "self-eating”. Scientifically, the term accounts for “a normal physiological process that deals with the destruction of cells in the body”
in the diagnosis of diseases. Histopathology favours biopsies ‘fixed’ on glass slides for examination whereas molecular pathology concentrates its efforts at a molecular and genetic level to aid in diagnosis. For: Sharing certain aspects of practice with other disciplines of pathology like clinical pathology, anatomic pathology, biochemistry, and molecular biology, molecular pathology seeks to understand and diagnose, at a molecular level, the mechanisms and origins of diseases (Harris and McCormick
A main difference that sets eukaryotic cells apart from prokaryotic cells is that eukaryotic cells contain a highly ordered and complex endomembrane system. It is thought that the endomembrane system evolved very shortly after Eukarya diverged from bacteria and archaea. The endomembrane system is composed of membrane bound organelles and these organelles are formed by lipid bilayers. When the bilayers fold they create separate compartments that do not include the cytosol. This folding is an energetically
Gaucher disease is an inherited, chronic, progressive genetic disorder. People diagnosed with Gaucher disease lack an enzyme known as glucocerebrosidase (Bennett, 2013). It is the most common condition within the lysosomal storage order diseases (Chen, 2008). Glucocerebrosidase helps break down glucocerebreside, a fatty substance stored or accumulated inside the lysosome (Enderlin, 2003). This causes the cells to become bloated and is visible under a microscope. It is estimated that about 1 in 40
Tay-Sachs Disease Tay-Sachs disease, while incredibly destructive to those it effects, is still a lesser-known issue. With around 16 cases of Tay-Sachs diagnosed each year, few know just how it occurs and what it does. Tay-Sachs is a progressive disease that eradicates nerve cells in the spinal cord and brain, causing paralysis and loss of motor functions. It almost always results in the death of the affected. The disease is found in a mutation on the HEXA gene. The HEXA gene makes beta-Hexosaminidase
Extensive and in-depth medical knowledge in multiple therapeutic areas in specific Oncology (prostate, breast and ovarian Cancer and brain tumor), Hematology, Vaccine (Immunology), Rare diseases (Tay-Sach's, Sandhoff disease and Mucolipidosis II and III), Diabetes, and Neurodegenerative disease (Alzheimer’s disease) • Publications in peer-reviewed
integrate different parts of its value chain. For a long time, this direction worked very well for the company. Orphan drugs represented a niche market that had minimal competition, besides the fact that there was an increased prevalence of rare diseases around the globe and most of the affected people were willing to pay huge amount to improve their standard of living. This resulted in positive financial results for Genzyme, which has been ranked one of the most respected companies globally. Although
is no known allergies to drugs but is allergic to aerosol sprays disinfectants and dust.. Advanced directives on chart. Code status DNR. Primary physician Dr. R, Thoracic surgeon Dr. L. Psychology Dr.W. There is PT, OT Dietary and Infectious Disease consults when necessary. He lives with his wife who he has been married to for 56 years. His son and his daughter come to visit him. He does not smoke. He wears dentures but did not bring them. He dose not use a hearing aid but he does have a hearing