Type 1 Citrullinemia Informative Speech Outline

5. What is the prevalence and prognosis of this condition? Is it an inheritable (genetic) condition/disease? (1 point)

Because there are different types of Waardenburg Syndrome, there are different types of inheritance patterns. Types I and III have an autosomal dominant inheritance pattern while types II and IV have an autosomal recessive inheritance pattern (Calendar 2013). The most common type of inheritance is the autosomal dominant inheritance (Type two 2013). An autosomal dominant inheritance pattern means that the mutated gene (EDNRB, EDN3, MITF, SNAI2, PAX3 and SOX10) is in each cell to cause Waardenburg Syndrome (Genetics 2013). In other words, only one parent has to have the copy of the altered gene in order for someone to have the syndrome. An autosomal recessive inheritance pattern means that the mutated gene has to come from both parents in order for a person to have Waardenburg Syndrome (Calendar 2013). Even though both parents carry the mutated genes, they don’t usually show any signs or symptoms of Waardenburg Syndrome.

This disease can lead to severe pneumonia, diarrhea, encephalitis and in a worst case scenario could even cause death.

Victims can suffer from symptoms like being agitated, aggressive, or becoming withdrawn and uncommunicative. Victims could also start showing sings normally associated with illnesses such as dementia like rocking and biting. In children the signs and symptoms could be similar to those shown in adults – they can become withdrawn, aggressive and truancy from school can become the norm.

These symptoms include double vision blurred or, seeing stars, sensitivity to light or noise, headache, dizziness or problems with equilibrium, nausea, vomiting, trouble sleeping, fatigue, confusion, difficulty remembering, difficulty concentrating, or loss of consciousness (Abreu, Edwards, Spradley,2016).

c. Argument #1: The symptoms that are described in the trials are violent muscle spasms, vomiting, delusions, hallucinations, crawling sensations on the skin, and more.

Early onset symptoms such as rash, vomiting, muscle pain, headache, and fever can occur (CDC)

AAT deficiency is caused by a genetic defect (gene mutation). The gene mutation is passed from parent to child (inherited). The disease typically develops only if a person inherits the defective gene from each parent.

Symptoms that may be expressed include memory loss, mood swings, slurred speech, depression, and death usually from heart disease or pneumonia. There can also be steady downfall of the person mental health. This also can destroy two small regions of the brain (the putamen and the caudate nucleus) that help control movement.

This paper discusses the Alpha-1 Antitrypsin Deficiency (AATD), which is a deficiency of Alpha-1 Antitrypsin (AAT) in the plasma. This protein helps prevent damage caused by neutrophil elastase, which fights against infection. The hereditary condition will be explained along with each of the alleles involved in the genes, Z, M, and S. AAT can be found on chromosome 14. AATD causes symptoms such as: cirrhosis of the liver, liver failure, jaundice, panniculitis, COPD, early-onset emphysema, and vasculitis. The treatments that will be discussed are: augmentation therapy, liver transplant, and intravenous therapies. Lastly, I will explain why testing for the genetic condition is important.

Symptoms of an overdose include; increased intracranial pressure, haematuria, methaemaglobinaemia, dyspnea, and coma. Also, nausea, diarrhoea, vomiting, seizures, diaphoresis, tachycardia, and hypotension. An overdose may prove

This hormone disorder affects about 1 in 100,000 people, but there are some accurate statistics on the Addison disease in the United States.

This disorder is caused by mutation at sequence of three nucleotides in DNA that specifies a particular amino acid during protein synthesis (codon 6) of the β-globin gene which caused the glutamic acid at position 6 in the normal protein is changed to a valine in the defect protein. This alteration affected the haemoglobin that consists two α-globin and two β-globin subunits. This will caused formation of blockage in blood capillaries made by crystal derived from deoxygenated defect protein.

Seizures, jaundice, elevated iron, enlarged liver, elevated copper, inability to move, poor sucking ability, vision disturbances, lack of muscle tone, difficulty swallowing, intellectual disability, prenatal growth failure, gastrointestinal bleeding and characteristic facial characteristics.

That type affects one out of every sixty-thousand males around the world, though it is much less common in females. Nearly one out of every seventy people are a carrier for the albinism gene. That means that even though they carry the albinism gene that does not mean they show any outward sign of having it. To get albinism both parents must have the gene, and the child has a twenty five percent chance of having albinism, a fifty percent chance of being a carrier, and a twenty five percent chance of having two normal genes.