Untreated PKU

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According to research, PKU is “an autosomal recessive genetic disorder characterized by mental retardation due to a deficiency in phenylalanine hydroxylase, an enzyme necessary to metabolize the essential amino acid phenylalanine to tyrosine. Without phenylalanine hydroxylase, phenylalanine is converted to neurotoxic phenyl pyruvic acid” (Gonzalez, 2009). For those who have PKU, the phenyl pyruvic acid would become quite toxic and lead to damage within the brain causing mental retardation. PKU was first discovered in 1938 by a man named Asbjorn Fölling, and throughout the early 1960s phenyl pyruvic acid was found in urine using a reaction with ferric chloride. However, it was in 1958, that Dr. Guthrie transferred to the Buffalo Children’s Hospital and was able to develop a new approach to measure and monitor

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.

ADPKD is a genetically heterogenous disease with mutations in either PKD1 or PKD2 gene. PKD1 gene is located at chromosome 16p13.3 and PKD2 gene localizes to 4q21-22. In Western population about 85% have mutations in PKD1 gene and rest 15% has PKD2 mutations (23-25% in some populations). Patients with mutation in PKD1 gene have more severe phenotype and an early onset disease than those linked to PKD2. Though most of the ADPKD patients have positive family history, about 10% have de-novo mutations. Asymptomatic at-risk family members have 50% chance of inheriting the disease. Previously reported studies have suggested a possibility of a third locus in families that did not relate to mutations in PKD1 or PKD2 gene. However

Phenylketonuria, or PKU, is an autosomal recessive, heritable disease that decreases levels of the enzyme phenylalanine hydroxylase, which is responsible for the metabolism of the amino acid phenylalanine, resulting in an unhealthy buildup that can lead to brain damage, seizures, and intellectual disability. While not curable, PKU, if detected early on, can be treated to allow sufferers to lead full and healthy lives. The symptoms of PKU appear almost immediately after birth, requiring parents and hospitals to make the necessary preparations, including feeding infants with special formula. Lack of such care can result in

The HGPRT deficiency results in an accumulation of uric acid in all body fluids. The decreased utilization of purines and increased synthesis combination produces high levels of uric acid buildup . As a result, hyperuricosuria and hyperuricemia occur which are associated with kidney problems

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).

Phenylketonuria is also know as PKU. It is a rare inherited disease where the progression of phenylalanine builds up inside the human body. Phenylalanine is a natural substance that is a building block of protein. People with PKU can not break up amino acid phenylalanine, which can lead to brain damage due to the phenylalanine building up into the blood and

PCD is one of the most common and characteristic paraneoplastic syndromes. In series of patients with antibody-associated PNS, presentation with cerebellar signs occurred in 37%. Usually the syndrome starts acutely with nausea, vomiting, dizziness and slight incoordination of walking, evolving rapidly over weeks to a few months with progressive ataxia of gait, limbs and trunk, dysarthria and often nystagmus associated with oscillopsia. The disease is progressive in months and then stabilizes. By this time most patients are severely debilitated: walking without support, sitting unsupported and self-feeding becomes difficult while handwriting is often impossible. Signs are always bilateral but may

Low phenylalanine containing diet is the first treatment of PKU, and this is applied for all of PKU patients. It has been demonstrated that low phenylalanine concentration in daily meals can effectively prevent mental retardation in PKU patients, especially in newborns (Knox, 1960). The major point of this treatment is to offer PKU patients with very low phenylalanine diets, and all of protein-rich and aspartame containing foods and drinks should be avoided. Aspartame is an artificial sweetener that can be converted into phenylalanine following ingestion, so it must be avoided from the diet of PKU patients (Williams, Mamotte & Burnett, 2008). Since PKU develops very early after birth, this treatment is applied immediately after conformation of the disease in an infant. For older kids, the amount of daily ingested protein is calculated each day regarding how severe PKU of the patient. Although this method can

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,

It is thought that PDK is caused by mutations of the genes on chromosome 16 or chromosome 4. The disease process begins with the appearance of cysts, which grow out of the nephrons of the kidneys.

Patients with moderate PKU typically do not require very strict dietary restriction due to some presence of PAH enzyme; iii). Variant PKU (serum phenylalanine is about 12-16 mg/dl) which has phenotypic variability due to allelic variation at the PAH locus. The individuals with variant PKU need to be under diet with low phenylalanine, but less strict than the classic one. (Fazeli et al

Also, the probability of giving birth to a child with phenylketonuria is 50 percent. Furthermore, if a homozygous dominant parent has children with a homozygous recessive phenylketonuria parent, the probability of getting a phenylketonuria child is zero. The child can only inherit a single recessive p gene from the phenylketonuria parent. The dominant P gene from the homozygous dominant parent masks the recessive p gene. Thus, for a person with phenylketonuria, all the offspring inherit the mutation and be carriers for

Some of the disorders in the article is prostate cancer. This is a kind of cancer that affects the prostate which is a gland found in the reproductive system of the men. This kind of illness is said to be cancer with the highest deaths after the skin cancer. This is because it develops gradually in a person’s body making them ignore their condition. It becomes worse when one starts having trouble urinating or when their urine becomes stained with blood. The other kind of disorder in the article is cerebral palsy. This is a condition which affects a person when they are in their babyhood. They are a collection of lasting movement illnesses which are normally identified through trembles, fragile muscles, poor harmonization, and rigid muscles.