G6PD Disease

The biochemical basis of this disease is related to the metabolism of fat. It is caused by an abnormality in the ABCD1 gene located on the X chromosome. This prevents the production of ALDP which functions as a

Parkinson disease (PD) is one of the most common neurologic disorders. and it affects approximately 1% of individuals older than 60 years old. Parkinson’s disease is a condition that progresses slowly by treatment. In addition, loss of pigmented dopaminergic neurons of the substantianigra pars compacta and the presence of Lewy bodies and Lewyneurites are the two major neuropathologic findings in Parkinson disease (Hauser, 2016).

(TCO 6) Which of the following is a genetic disorder resulting in debilitating protein abnormalities?

• Lack of functional aldolase B enzyme reduces the amount of DHAP, leading to fewer phosphate groups available for use in the body; also, without aldolase B, fructose cannot enter the glycolysis process into which sugar will not be converted into usable energy for cell processes.

Otherwise known as G6PD deficiency, people with an extreme case of this illness would experience hemolytic anemia, fever, and fatigue after eating fava beans or take drugs like primaquine. This is due to the fact that people with favism lack sufficient amount of the enzyme G6PD, which is important for protecting cells from chemical elements that would otherwise destroy the cells. The substances mentioned above act as the catalysts for the production of free radicals (un-paired electrons). As these un-paired electrons seek to pair with electrons in red blood cells with deficient amount of G6PD, it causes the cell membranes to burst. The loss of red blood cells when left untreated can cause the person to have kidney failure, heart failure, and death. As of now, there is no treatment for G6PG

Fifth Disease also known as Erythema Infectious is a viral illness caused by the parvovirus B19. It is more common in children ranging from five to fifteen years of age than it is in adults. Most children will recover quickly without having any long lasting complications. Individuals may recognize the disease by the distinctive red rash that appears on the face that resembles a slapped cheek. Fifth disease has an incubation period ranging from four to fourteen days, however it can last as long as twenty days. Did you know that fifth disease gets its name for being listed number five on the list of historical classifications of common skin rash illnesses in children?

In the case of diseases such as the DiGeorge syndrome, the immune system activity is not functioning properly due to the abnormal development of the thymus gland inducing a minimized production of T Cell. Whereas, in another case such as asthma, the immune system is overreacting. The other possibility of abnormality of the immune system is the impossibility for it to make a difference between invaders and the body’s cell causing the immune system to attack itself, those are the autoimmune diseases such as multiple sclerosis.1

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

Muscular dystrophy (MD) is a genetic disorder caused by incorrect or missing genetic information that leads to the gradual weakening of the muscle cells. Various causes lead to weak and deteriorating muscles depending on the type of muscular dystrophy the patient was affected by. However, there are many causes for muscular dystrophy due to the fact that there are thirty forms of muscular dystrophy, which are categorized under several categories. All are ultimately caused by autosomal recessive, autosomal dominant, sex-linked, and random mutations in very rare cases.

Erythema Infectiosum is called fifth disease. It is a mild illness caused by a virus. This virus most commonly occurs in children. The disease usually causes a bright red rash that appears on both cheeks. The rash has a "slapped cheek" appearance. Before the rash, the patient usually has a low-grade fever, mild upper respiratory symptoms, and a headache. One to three days after the cheek rash appears, a pink, lacy rash appears on the body, arms, and legs. This rash may come and go for up to 5 weeks. It often gets brighter following warm baths, exercise, and sun exposure. Your child may have no other symptoms or only a slight runny nose, sore throat, and very low fever. Complications are rare. This illness is quite

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.

Methemoglobinemia can be either acquired or congenital. When methemoglobinemia is acquired the mechanism that reduces methemoglobin is not able to keep up with the amount of oxidation that is occurring due to the various methods of acquiring methemoglobinemia [2]. There are two primary reasons for congenital methemoglobinemia; either there is a presence of an abnormal structure of the hemoglobin molecule, called hemoglobin M, or a deficiency in the enzymes cytochrome b5 methemoglobin reductase or glucose-6-phosphate dehydrogenase (G6PD) [5]. There are two main types of congenital methemoglobinemia, type I and type II. Type I methemoglobinemia is where the enzyme deficiency only affects the erythrocytes, and is easily

Diabetes mellitus (DM) is a condition in the body that is related to a faulty metabolism. It means that the body’s metabolism is not functioning properly, which leads to adverse effects in the health. The food we ingest, gets broken down into blood sugar (glucose), which is what fuels our body in the form of energy. This converted glucose needs to enter our cells so that it can be used for energy and growth. And in order for the glucose to enter our cells, there needs to be insulin present, which the beta cells of the pancreas is responsible for producing. This hormone is responsible for maintaining glucose level in the blood. It allows the body cells to use glucose as a main

Parkinson Disease (PD) is a neurodegenerative disease symptomized by tremor, muscular rigidity, and slow imprecise movements. Typically, the disease affects middle-aged and elderly individuals. PD is associated with degeneration of the basal ganglia of the brain causing a deficiency of the neurotransmission of dopamine.

screenings in multiple populations, it was concluded that the most common mutation shared between Caucasians is R864X.