Phenylketonuria Should Be Allowed

Shannon’s glucose levels are still high (above 6.1 mmol/L) thus still needs the insulin drip (Robbins et al., 2010). Administration of insulin and efforts made to correct metabolic acidosis forces potassium into the cells causing hypokalemia (Bopp, 2010). Thus, even though the potassium is within therapeutic levels (3.5-5 mmol/L) there is a high chance that Shannon may experience hypokalemia and the administration of NS with potassium is necessary (Bopp, 2010).

Methionine and cysteine are both sulphur containing amino acids. Most proteins will contain one, or both of them at some point in the polypeptide chain. As such, many amino acids contain sulphur in some form, which is required in small amounts in the mammalian diet.

In people with PKU Phenylalanine’s most apparent and benifical side affect is itrs function as a necessary building block for protein; It may also help create chemicals that work to regulate appetite and mood.

Untreated PKU can lead to brain damage, intellectual disabilities, behavioral symptoms, or seizures. The defective gene does not produce the enzyme necessary to break down and rid the body of phenylalanine. The symptoms of phenylketonuria result from a buildup of (Global Genes, 2012) I eat differently. My friends understand PKU is very difficult, but-non PKU people think I am VERY different. I’ve had to adjust to other’s perceptions and learn to cope with what other people expect is the norm.”(Global Genes, 2012) this researcher would describe this disorder as A birth defect that causes an amino acid called phenylalanine to build up in the body. Phenylketonuria is an internal disorder. delayed development, failure to thrive, short stature, or slow growth

The acute crisis of metabolic decompensation in MSUD is a deadly dangerous medical case that demands immediate action to lower concentrations of leucine and other BCAA in plasma. This aim can be reached by using Intravenous mixtures of amino acids , which deals with the process of protein synthesis , however these mixtures are not generally available and requires medical care and continuous administration , that what lead to developing enteral mixtures suitable for administration by nasogastric drip in minimal volume along with provision of water and calories intravenously , to reduce concentration of Lucien and other BCAA in patients with acute crisis of metabolic decompensation in MSUD. This way proved

An analysis of fifty-seven patients with GLUT1 deficiency syndrome was conducted by Leen and associates and seventeen different missense mutations of SLC2A1 were discovered. Of the seventeen mutations, a single nucleotide of adenine in the third helix domain of the SLC2A1 gene was substituted with a guanine. This missense mutation found on the 286th base pair caused the codon to generate the amino acid valine rather than methionine as seen on figure 2. This single missense mutation caused the classic phenotype expression of epilepsy in patient three, an 8-year-old female child. Two other patients in the study had a mutation in the third helix in the transmembrane portion of the protein, however their SLC2A1 gene contained a deletion rather than a missense

The long-term outlook for people with PKU looks very good if they follow their diet closely. If for some reason the treatment is stopped or delayed, brain damage can occur. (MedlinePlus, 2017) Doctors in the past would tell their patients with PKU that as they got older, they could start laying off the diet. There has been discussion today about whether or not that is right. Most doctors go against that idea today. (NIH,

Patients with DKA are usually severely dehydrated. This is a result from polyuria and osmotic diuresis. Osmotic diuresis occurs when the concentration of glucose is higher than the reabsorption capacity of the kidney, so glucose remains in the filtrate. This increases the osmotic pressure which causes an increase in water and potassium to be excreted out into the

Diabetic Ketoacidosis (DKA) is a serious disease with complications that may have fatal results in some cases. DKA is defined as an insulin deficiency that occurs when glucose fails to enter insulin into muscles such as: liver and adipose tissue. When there is an accumulation of ketones, it leads to metabolic acidosis which causes nausea and vomiting, as a result fluid and electrolytes are loss (Gibbs). There are many complications of diabetic ketoacidosis, some of the most prevalent are: Cerebral Edema, Hypolglycemia, and Acute Pancreatitis.

Diabetes mellitus is most commonly known as diabetes. Diabetes is formally a Greek word that translates to, “the making of lots of urine with sugar in it or making sweet urine” Brawley. This disease is due to a metabolic dysfunction. Diabetes is caused due to the fact that insufficient insulin is being produced in the pancreas. Sometimes this disease can even be caused because the cells are not being responsive to the insulin being produced. Unfortunately diabetes is not just one single strand but it comes in Type 1, Type 2 and gestational diabetes. To begin with, diabetes is not specified to just one group age or gender it can strike anyone from any age in life. According to the distinguished, What is Diabetes?, article, in the past years the amount of diabetes cases has increased dramatically by 50 percent making it be 29 million people suffering from this disease.

Phenylketonuria is an autosomal recessive error that leads to a mutation of the enzyme phenylalanine hydroxylase (PAH). This disease, more commonly known as PKU, is characterized by a deficiency in the enzyme needed to process the amino acid called phenylalanine (Mayo Clinic Staff, 2014). The mutated PAH is crucial in the degradation of amino acids. The amino acids we intake are from food, which makes PKU a metabolic disorder (Okan, 2011). The body’s inability to break down phenylalanine leads to a build up of it in the body. The excess of this amino acid negatively impacts the cognitive function of the individual. Phenylketonuria is the most common inborn error of amino acid metabolism (Arnold, 2014).

In the United States alone, a genetic disorder known as Phenylketonuria (PKU) occurs in every 1 in 10,000 newborns, and has the capacity to cause severe mental deceleration. The causative agent of PKU is a single mutation in the PAH gene, which triggers the build-up of the amino acid phenylalanine. Thanks to discoveries made over the last century, newborns are screened for the disorder at birth, and thus treatment can start promptly if needed. As of now, there is no cure for PKU, only a restrictive diet to reduce symptoms.

Metabolism is a process in which chemicals and enzymes break down food in the digestive system to make energy. The food is converted into simple sugars, energy and amino acids with the help of the mitochondria. A body can use this energy right away or it can store the energy in tissues such as liver, muscles, and body fats. A metabolic disorder happens when something goes wrong with the metabolic process because of abnormal chemical reactions. The metabolic disorder causes some substances to be produced either too much or too little, resulting in unhealthy digestive conditions. Metabolic disorders can affect the breakdown of carbohydrates, lipids, or amino acids. Metabolic disorders can also happen if an enzyme or vitamin required to carry out a chemical reaction goes missing. One of the rarest, inherited metabolic disorders is Alkaptonuria. Alkaptonuria occurs when there is a build up of homogentisic acid (HGA) that causes the urine to turn black when exposed to air. The buildup of HGA gets deposited throughout the body and usually attaches to connective tissues and cartilages

Phenylketonuria, otherwise known as PKU, is a rare genetic disease that is caused by a person’s body being unable to metabolize the amino acid phenylalanine. The disease can cause mental retardation because the build up of phenylalanine in the body. When phenylalanine is not broken down and turned in a different amino acid, tyrosine, it can create other enzyme routes that build up in the blood stream and body tissue. This can be extremely harmful to the body and its development. This disease is caused by missing the enzyme phenylalanine hydroxylase, this enzyme is the one that normally breaks down phenylalanine. It is rare for this enzyme to be completely absence, but this form leads to the most severe mental

Mutations for KLHL3 that cause disease all involve missense mutations, resulting in a different amino acid, again noting the inability to interact with substrates (7). One mutation, for example, resulted in a cytosine to thymine nucleotide change at codon 410, changing from a serine to a leucine amino acid. This change in polarity, moving from a polar to nonpolar amino acid, disrupts regular formation of the E3 complex, not allowing for ubiquitin attachment. These missense mutations often inhibit the ability of the KLHL3 protein to form the E3 ubiquitin ligase complex, and so this prevents the normal function of identifying extraneous and damaged proteins, resulting in an excess of WNK4, due to no protein degradation as a result of the inability to tag these excess proteins. This inability to form the complex in some mutations is a result of the cluster of serine residues that were affected by the mutation, building up on the propeller domains, disrupting interactions with substrate and/or altering protein structure, though it is more common to see one or the other (6). This leads to high blood pressure, due to no control over WNK4 concentrations in the blood. It was commented on that the majority of mutations affected the ability of the KLHL3 to associate with the rest of the complex, therefore unable to