Alkaptonuria Research Paper

Metabolic alkalosis is a condition in which the body fluids have excess base. The kidneys and lungs maintain the proper balance of chemicals, called acids and bases, in the body. Decreased carbon dioxide or increased bicarbonate level makes the body too alkaline. There are different types of alkalosis such as: respiratory alkalosis, which is caused by a low carbon dioxide level in the blood. This can be due to: fever, lack of oxygen, lung disease, or liver disease; hypochloermic alkalosis is caused by an extreme lack or loss of chloride, from prolonged vomiting; hypokalemic alkalosis is caused by the kidneys’ response to an extreme lack of potassium, this can occur from taking certain water pills. Compensated alkalosis occurs when the body returns to the acid-base balance to normal in cases of alkalosis, but bicarbonate and carbon dioxide levels remain abnormal. Symptoms of alkalosis can include: confusion, hand tremor, light-headedness, muscle twitching, vomiting, and numbness or tingling in the face, hands, or feet. Treatment for alkalosis depends on

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

9.3% of the people in the U.S. suffers from diabetes. Diabetes is a compound group of diseases with a variety of causes. People with diabetes have high blood glucose, which is also called high blood sugar or hyperglycemia. Diabetes is a disorder of metabolism. Metabolism is when the body uses food for energy that is digested. When the food is digested, carbohydrates are broken down into sugars. These sugars ultimately break down into glucose as they enter the bloodstream and get absorbed by the tissues.

Phenylketonuria (PKU) occurs in 1 in 15,000 newborn babies just in the United States. All around the world, PKU affects about 1 in 20,000 newborns. PKU does not affect a person’s life expectancy no matter if they receive treatment or not. It is screened for in all newborns in all 50 states. (Boston Children’s Hospital, 2005-2017)

Phenylketonuria (PKU), is the most common inborn error of amino acid metabolism, results when a deficiency of the enzyme phenylalanine hydroxylase (PAH) impairs the body’s ability to metabolize the essential amino acid phenylalanine. This leads to accumulation of phenylalanine in body fluids. Elevated of phenylalanine levels negatively impact cognitive function, and individuals with classic phenylketonuria almost always have intellectual disability unless levels are controlled through dietary or pharmacologic treatment (Georgianne L Arnold, 2014).

I would like to first begin by saying a person’s metabolic rate depends on how much thyroxine is produced in the thyroid. Also, there are two types of metabolism, anabolism and catabolism. “Anabolism turns smaller molecules into large molecules, such as fat, protein, and carbohydrates. Catabolism is the process of breaking down fat, protein, and carbs for energy” (newhealthadvisor.com). The pancreas plays a key role in determining how much glucose was consumed and therefore if insulin should be released for anabolism. So the pancreas is the deciding factor on whether or not metabolism will be anabolic or catabolic. All chemical reactions in the body are categorized as metabolism. To be able to perform metabolism, the body needs an adequate supply of oxygen and nutrients.

Diabetic ketoacidosis (DKA). If your body can't get enough glucose for fuel, it breaks down fat cells instead. This creates chemicals called ketones. Your liver releases the sugar it stores to help out. But your body can’t use it without insulin, so it builds up in your blood, along with the acidic ketones. This combination of extra glucose, dehydration, and acid buildup is known as "ketoacidosis" and can be life-threatening if not treated right away.

One of the world’s most rare inherited genetic disorders, Phenylketonuria is an autosomal recessive condition that affects 1 out of every 15,000 people in the U.S. It’s well known for causing brain damage and mental disabilities, and central nervous system damage amongst other irreversible symptoms. Although it can now be tested for and is treatable today, it limits what foods the body can eat without serious harm. Phenylketonuria is a metabolic disorder involved with chemical imbalances of proteins and paves the way for harsh symptoms, developmental disabilities, and an incredibly strict diet.

The signs and symptoms of DKA include polyuria, polydipsia, nausea and vomiting, dry mouth, rapid weak pulse, flushed dry skin, Kussmaul respirations, fruity odor on their breath, and a gradual increase in lethargy, confusion, and restlessness. (MAYBE INSERT CITATION FROM TEXTBOOK PAGE 1176). To diagnose a patient with DKA they must have a glucose reading of greater than 250 mg/dL, arterial blood pH less than

Phenylketonuria is an uncommon metabolic genetic disorder that is caused by a mutation in the phenylalanine hydroxylase (PAH) gene. The PAH gene is located on the long arm of chromosome 12, specifically at location 23.3, and is responsible for the conversion of the amino acid phenylalanine to tyrosine. The mutated PAH gene associated with phenylketonuria is caused by an autosomal recessive disorder. Autosomal recessive disorders result when two copies of an atypical recessive gene are passed on to an offspring, meaning both the mother and father carry the abnormal PAH (p) gene. Although the parents themselves may not have the disease, the offspring that results from two recessive carriers is positive for PKU and has the genotype pp. An

Metabolic sicknesses, for example, hypothyroidism, hypoglycemia, ailing health, vitamin insufficiencies, lack of hydration, kidney or liver disappointment.

Phenylketonuria is a condition is when phenylalanine is in your body and you can’t break down an amino acid "PKU (Phenylketonuria) in your baby | March of Dimes." Also, other people say it is an inborn disorder of metabolism, which characterized by a deficiency or lack of a vital enzyme phenylalanine hydroxylase (Genetics of Phenylketonuria). All proteins and some artificial sweeteners contain Phenylalanine in it (Phenylketonuria." Healthline). Your body uses an enzyme called phenylalanine hydroxylase to convert phenylalanine into tyrosine, a non-essential amino acid (Phenylketonuria." Healthline). Without tyrosine, your body would have nothing to create neurotransmitters, such as norepinephrine, epinephrine, and dopamine (Phenylketonuria." Healthline).

Acid Maltase Deficiency (also called Pompe Disease) is a metabolic disorder, which interferes with the processing of food for energy production. The Cause of AMD is a complete or partial deficiency of the lysosomal enzyme (National Institute of Neurological Disorders and Stroke, 2014). This is an enzyme that is necessary to break down glycogen and to convert it into glucose. Without this enzyme the glycogen builds up in the lysosomes (sacs in muscle) and leads to severe muscle degradation. This mostly affects the heart, skeletal, and respiratory muscles of a person. (Muscular Dystrophy Association, 2014)

It is not right away that a baby will experience symptoms but as the disease progresses and is improperly treated symptoms including mental disabilities, behavioral issues, seizures and many other developmental problems will become active (Mayo, 2014). A child with the less severe form of this disease would have less extensive brain damage than the classic PKU due to the slightly active enzyme (Mayo, 2014). There is no cure to this disease yet, only ways to manage it. According to an article written by Danique van Vliet, “this is the first disorder in which severe neurocognitive dysfunction could be prevented by dietary treatment” (2015). A baby diagnosed with PKU is set on a very strict diet that excludes any foods and products that contain phenylalanine hydroxylase (van Vliet). With no phenylalanine hydroxylase to metabolize there would be no buildups which neutralizes the disease. As long as the dietary restrictions are followed and proper medical measures are taken a person diagnosed with PKU is able to control their

Diabetic Ketoacidosis, also known as DKA or Diabetic acidosis, is an acute, major, and potentially life-threatening complication in people with diabetes. It can also lead to diabetic coma or even death if a person passed out for a long time. It happens more commonly in people with type I diabetes, aka diabetes insipidus, but it can also occur in people with type II diabetes, aka diabetes mellitus. It is also more common in African, African-American, and Hispanic people. Diabetic ketoacidosis occurs in 4.6-8.0 per 1000 people with type I diabetes annually. It occurs when your body has too much levels of blood acids called ketones. High level of ketones can poison the human body. The condition develops when a body is unable to get the sugar the body needs because the it is not producing enough insulin. Insulin plays a vital part in the metabolism of the body, it helps glucose enter the cells. If the body does not have sufficient insulin, the body starts to break down fats and muscles as fuel instead. This can lead to a buildup of ketones in the bloodstream, causing chemical imbalance called diabetic ketoacidosis if left untreated. Diabetic ketoacidosis is sometimes the first sign of type 1 diabetes in people who have never been diagnosed before. For people who have already been diagnosed with type 1 diabetes, a serious illness, surgery, infection, or not using insulin the proper way can lead to DKA. Diabetic ketoacidosis is a medical emergency that needs to be addressed