Gaucher 's Disease ( Glucocererbrosidase )

The symptoms adults experience are much the same as the children experience without the stunning of growth and affect on puberty. Some adults having a mild form of the disease exhibit almost no symptoms. Others may experience a loss or gain in appetite, abdominal pain, bloating, gas or indigestion. In addition, other people have bothersome symptoms including diarrhea, weight loss, abdominal discomfort, and excessive gas caused by vitamin and nutrient deficiencies (The Mayo Clinic staff, 2011).

In fact half of the adult celiac disease patients coming to PGI do not have any abdominal symptoms. The most common non –gastrointestinal symptom is iron deficiency anemia followed by weight loss. Celiac disease symptoms can also mimic those of other conditions, such as irritable bowel syndrome, gastric ulcers, parasite infections, skin disorders or bone disease. Celiac disease may also present itself in less obvious ways, including irritability or depression, joint pains, muscle cramps, mouth sores, dental and bone disorders (such as osteoporosis), and tingling in the legs and feet (neuropathy).

The symptoms of the Huntington's disease vary from person to person. They can be grouped in two categories: Abnormal involuntary movements and

Some of the general symptoms of the disease can be characterized by hind limb spasticity, weight loss, tremors, abnormal posture with lordosis, and possibility of visual impairment. Muscle weakness, clasping of the limbs, and myoclonic twitches of the head that can be onset late in the disease. Research of the GM2 ganglioside has revealed that storage of the fatty substance varies a large

What is Krabbe disease? Krabbe disease, also known as globoid cell leukodystrophy, is a rare but deadly disease. It is caused by the inability to create enough of a substance called galactosylceramidase, which is needed to make myelin. This leads to a buildup of toxic substances in cells that produce the myelin sheath and to a progressive loss of myelin that covers many nerves. Myelin acts as a protective covering for cells and nerves and without it, cells and nerves in the brain can’t function properly.

The specific metabolic disorder that I picked for this discussion is Krabbe Disease or globoid cell leukodystrophy. The disease destroys the protective coating of nerve cells in the brain and throughout the body causing the nerve cells to stop responding or react unpredictably. The disease is caused by a person receiving two copies of a mutated gene that results in severely curtailed production of an enzyme called galactocerebrosidase (GALC) (Krabbe disease, n.d.). This enzyme is responsible for breaking down certain substances in a cell's recycling center. Unfortunately, in Krabbe disease, not enough GALC was produced so the cells begin accumulating fats called galactolipids which normally are responsible for maintaining the protective coating

Tay-Sachs disease is also known as: B Variant GM2 gangliosidosis, GM2 gangliosidosis type 1, Hex A deficiency, Hexosaminidase A deficiency, Hexosaminidase alpha – subunit deficiency (Variant B), sphingolipidosis, and TSD. The main cause of Tay-Sachs is a defective Hex-A gene, and an absence of a significant enzyme known as hexosaminidase. A gene on the fifteenth chromosome codes for the generation of Hex-A, and does not function properly in Tay-Sachs patients. Each person has is intended to have two Hex-A genes. Based on inheritance and genetic patterns, even if one gene is defective, the child will still be healthy. Following the inheritance pattern, if two healthy, carrier parents have a child, then that child will inherit a defective gene

Fabry Disease occurs due to a disorder in the lysosomes. Lysosomes typically serve as recycling centers within cells; they contain enzymes to digest several different molecules. In Fabry Disease, the affected individual has a mutation in the GLA gene. The GLA gene provides code to produce alpha-galactosidase A. Alpha-galactosidase A is an active enzyme in lysosomes to break down globotriaosylceramide, a fat consisting three sugars attached to a fatty substance. The mutation in the GLA gene can cause an absence or decrease in the amount of alpha-galactosidase A produced. This change in the amount of enzyme produced prevents breakdown of the fat effectively and the fat begins to build up in excess inside the cells. The accumulation of globotriaosylceramide then damages cells and leads to the symptoms seen in Fabry Disease.

have been trying to find the exact cause of this disease and how it can be treated so

Cystic Fibrosis (CF) is the most common and fatal genetic disease currently in the United States, affecting roughly 30,000 Americans each year (National Human Genome Research Institute, 2013). CF is an autosomal inherited disease that adversely affects the mucus and it’s production throughout the entire body. Mucus is normally a slippery substance that lubricates and protects vital organs and body systems including the lining of airways, reproductive system and digestive systems. Patients who are diagnosed with CF actually have mucus that is abnormally sticky and thick, which places them at a high risk for severe pulmonary, digestive, and reproductive problems. Specifically regarding the pulmonary system CF patients often develop clogged airways, leading to bacterial infections and breathing abnormalities such as chronic coughing, wheezing, inflammation and lung damage. As a result of this recurrent and problematic, this places the patient at an increased risk for permanent lung damage and disease. Over time due to recurrent, chronic lung infections the characteristic of the lungs begin to change as more and more scar tissue develop making them fibrotic and develop cysts.

Classic Galactosemia, Type 1, is a complex disorder and the exact pathophysiology has is controversial. However, it is most commonly accepted that the main factor is the accumulation of galactose-1-phosphate, gal-1P, which is due to the impairment of galactose-1-phosphate uridylytransferase, GALT. This reaction uses the GALT enzyme as a part of the Leloir pathway which enables the body to process galactose.

Tay-Sachs disease is one of three autosomal recessive, lysosomal storage disorders, collectively known as the GM2 gangliosidoses. They result from accumulation of

The exact causes of GBS are the subject of ongoing research. Although, the exposure to a lung or gastrointestinal infection such as: Campylobacterjejuni infection seems to play a major role as

The reading shows disease and inheritance in an entirely new light. It introduces the idea that genetically inherited diseases may have been selected for, which means that they must provide certain evolutionary advantages. It reorients the reader’s perspective about a disease like hemochromatosis, which has the potential to be incredibly harmful and even deadly, establishing that it may have once provided protection from the bubonic plague, making it an advantageous trait. This brings other genetic diseases into question, examining why diseases that appear to be harmful have not been eliminated from the gene pool. The idea that a disease that is harmful and dangerous in modern times could have once been a beneficial adaptation is very interesting.

McArdle 's Syndrome is a muscle metabolism disorder that is caused by a deficiency of the glycogen enzyme muscle phosphorylase (Quinlivan). Muscle phosphorylase is the enzyme that breaks down glycogen during glycolysis. Without this enzyme, the body has a difficult time going through anaerobic glycolysis and can cause an individual to experience intense muscle pains. It is estimated that 1 in every 100,000 people will get McArdle 's Syndrome (Haller). McArdle 's Syndrome is a genetic disorder, so there is no preventing it. Even the unaffected child of an affected person will have a 50% chance of being a carrier, which means they could pass it on to their own children (Martín). Other common names for McArdle 's Syndrome are Glycogen Storage disease type V (GSDV) and McArdle disease (Martín, Quinlivan).