Factors Associated With An Autosomal Recessive Hereditary Metabolic Disorder

A (assessment): Ms. O’Reilly’s vital signs are temperature of 37.5 C, pulse of 112, blood pressure of 102/52, and respirations of 24. Her respirations are still deep but have a regular rhythm. She has a CBS of 8.1 and regular insulin running as per orders. The lab work shows uncompensated metabolic acidosis with no hypoxia. Ms. O’Reilly’s neurological status has improved with a GSC of 13. Her dehydration is being treated with NS containing 40mEQ KCL/L running at 200ml/hr and potassium levels maintained at 4.

The patient is positive for C. Diff, this is causing her to have diarrhea. The diarrhea is causing the patient to be dehydrated because she isn’t retaining any water. This is causing her kidneys to not function properly.

Genes control almost every aspect of human life, and when it comes to weight there is no exception. Little is known, however, how much of an individual’s genes actually control the weight of certain individuals. Body fat can vary from person to person, yet some people have always carried more weight than others. Often times, when one person is overweight in the family, most of the other individuals in the same family are overweight as well. However, more than just genetics can go into being overweight, and a person’s genes are not the end all be all of obesity. Many times the environment surrounding people who are obese contributes to the overall weight of the individual, and when obesity promoting genes are mixed

541). Interventions should be rendered continuously, promptly and appropriately as it can cause life-threatening complications (Holt 2009, p. 26). Apparently, the patient is stable, but continuous assessment and management should be done to avoid recurrences of untoward signs andsymptoms and prevent potential complications. Firstly, continuous assessment and vital signs should be done and these include blood pressure, cardiac rate, respiration, venous distention and skin turgor to assess possible occurrence of fluid overload as a result of rapid administration of large fluid that is often needed to treat the patient with DKA (Smeltzer & Bare 2004 p. 1185). Aside from this, documentation of fluid intake and output should be monitored and documented to assess for circulatory overload and renal function (Holt 2009, p. 61). Significantly, it is integral in the provision of continuous care that nurses reassess the factors that may have contribute or led to DKA, and educate the patient and his family about strategies to prevent its recurrences (Smeltzer & Bare 2004 p. 1186; Lemone, Burke & Bauldoff 2011, p. 551).

The diagnosis of the inherited metabolic disorders is conducted by routine testing and is normally present at childbirth. Although this test is not conducted at childbirth many states are improving there testing systems with use of improved technology. Thus, if the disorder is not detected at birth may go undiagnosed until the symptoms present themselves on the patient, then a blood or DNA test can be conducted to find out what type of disorder it is.

The purpose of this paper is to discuss the effects of the disorder and how genetics and biochemistry work together to create this

Maple syrup urine disease (MSUD) is a rare genetic disorder characterized by deficiency of certain enzymes (branched-chain alpha-keto acid dehydrogenase complex) required to break down (metabolize) specific amino acids in the body.(WebMD, 2015)

Maple Syrup Urine Disease is a potently fatal disorder which affects the body’s ability of breaking down three Branched chain amino acids: isoleucine, leucine and valine. The inability of breaking down the three-branched amino acid chain is due to defect in an enzyme called branched chain alpha ketoacid dehydrogenase. Which is the enzyme responsible for breaking down isoleucine, leucine and valine. This will result in high levels of the branched amino acids in plasma and alpha ketoacid in urine. The presence of alpha ketoacid in urine will result in a burned maple syrup odder. Hence the name, Maple syrup urine disease (MSUD).

Gaucher disease (GD) is an inherited gene that stops glucocerebroside (type of lipid) to be broken down correctly. When this lipid cannot be broken down, buildups appear in the liver, spleen, and bone marrow which affects normal functioning. These organs begin to grow to an irregular size, amenia becomes present within the patient, and easy bruising appears due to the decrease in blood platelets. Gaucher disease is created during an autosomal recessive pattern, which means that two genes have a mutation, which causes the disorder. Normally, if a child is born with this disease, both parents carry one copy of the mutated gene. The gene that the mutation appears in is the GBA gene. GBA is located in chromosome one. The GBA gene is in charge of creating the instructions for producing an enzyme called beta-glucocerebrosidase. This enzyme breaks down the glucocerebroside into glucose and ceramide (a simpler fat molecule). When mutations appear in the GBA gene, the activity of the beta-glucocerebrosidase is reduced abundantly. Without this important breaking down of the

A dysfunction of an enzyme in the peroxisome leads to the accumulation of very long-chain fatty acids (VLCFA) in several areas (several areas of what?) including the central nervous tissue(CNS). The accumulation of VLCFA is toxic leading to the death of neuroglial cells like the oligodendrocytes and astrocytes. Astrocytes in normal conditions regulate the composition of the blood-barrier in the central nervous system; The olygodendorocytes form the myelin sheath that covers the axons and facilitate the effective propagation of action terminals from the neuron to the target cells (Amerman 390). This disorder (what disorder) is caused by a mutation in the ABCD1 gene of the X-chromosome, it causes the demyelination of the neurons in the CNS inhibiting the integration of the information from sensory stimuli and the proper response to them, causing eventually death. X-linked disorders are present are a wide variety of phenotypes, CCALD is the most common and presents only on boys between the age of 4 and 12. CCALD is a rapidly progressive disease, its deteriorates the patient health in a matter of years, and due to its complexity, its commonly misdiagnosed (Engelen).

The treatment for this patient is to replace the fluid which should stop the release of angiotensin and aldersterone. This should be accomplished with normal saline. If there is hypokalemia you would need to supplement with potassium. A proton pump inhibitor would also need to be used like prilosec to prevent further losses in hydrogen ions. If she was on any diuretics they need to be discontinued and if renal failure is

There are many different contributions to child hood obesity. Genetic factors is one contribution to childhood obesity, but while genetics is a factor it is not the main factor in childhood obesity. Genetic factors cannot be the main contributor to the obesity because of the major increase in obesity in children cannot all be contributed to genetics. There has to other environmental factors mixed with the genetic factor to make the child extremely over weight or obese unless the child has a genetic disorder like Prader-Willi syndrome. Environmental factors are another contributor to childhood obesity. Like the way their parents parents act at home. If the parents eat a lot and don't exercise the child if mostly likely going to be the

In Kidney failure cases urea, creatine, uric acids and electrolytes move from the blood to the dialysate with the net effect of lowering their concentration in the blood. RBC s WBC s and plasma proteins are too large to diffuse through the pores of the membrane. Hemodialysis patient are exposed to 120 to 130 L of water during each dialysis treatment. Small molecular weight substances can pass from the dialysate in to patient’s blood. So the purity of water used for dialysis is monitored and controlled.

Infantile acid maltase deficiency is a perfect example of a motor neuron and metabolic myopathy that results in hypotonia. Consequently, is the most severe and worse prognosis with death ranging between the ages of 6 months and 2 years. Typically, many patients do not survive beyond the first year of life and die as a result of heart failure. Similarly, there have been clinical presentations on infants that had less severe cardiomyopathy; absence of left ventricular outflow obstruction and an extended survival rate have been categorized as a non- classical infantile

Genetic diseases are being discovered more often as we learn the affects that genes have on the body. McArdle’s disease is a metabolic disease that affects skeletal muscle because of a gene mutation. The genetic mutation prevents the creation of the enzyme myophosphorylase. This enzyme is responsible for the breakdown of glycogen in muscles (Haldeman-Englert, 2014). McArdle’s disease is also known as Type V Glycogen Storage Disorder. It affects approximately one out of every 100,000 people ("McArdlesDisease.org," n.d.). Glycogen is broken down into glucose, which is used to produce adenosine triphosphate for muscle energy. Patients can live relatively normal lives with this disease once proper care and education has been provided (Kitaoka, 2014).