Untreated PKU

Define Phenylketonuria. This is a rare inherited condition where the infant is born without the capability to properly break down phenylalanine. Also known as PKU. This allows the amino acid (phenylalanine) to build up in the infant’s body. Which means that a diet high in protein can lead to multiple serious health problems because of the dangerous levels that can build up from the incapability of breaking down phenylalanine. For someone diagnosed with PKU, it is a lifelong lifestyle change to follow a diet that limits the intake of phenylalanine which found mostly in proteins.

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.

These people with are born with a mutated copy of the PKD1 (85% of cases) or PKD2 (15% of cases) gene in each cell and this mutated gene is inherited from one of their affected parents in about 90% of the time. The other 10 percent of cases result from new mutations in people with no history of the disorder in their family. This is known as acquired polycystic kidney disease. The PKD1 gene is located on chromosome 16 and PKD2 gene is located on chromosome 4. Not only are there mutations in the DNA of these genes but there may also be large deletions that remove sometimes up to 10 genes.

PKU, also known as Phenylketonuria, is a genetic disorder that builds up the amino acid phenylalanine in the human body. This genetic disorder is known to be an example of the norm of reaction. The norm of reaction defines itself as a phenotype range that a person with a certain genotype reveals due to the differing of a certain environmental condition. Since this genetic mutation targeted the gene that encrypts the enzyme phenylalanine hydroxylase, it shows that if a person has one and/or two copies of that certain gene, that person would have the ability to eat and metabolize foods with phenylalanine. But, if a person has two copies of the mutated gene, they wouldn’t be able to eat nor metabolize foods with phenylalanine because if a person with PKU were to ingest foods with phenylalanine, the amino acid will accumulate in their body and become highly toxic to the person and the PKU homozygotes will lead to an assortment of detrimental symptoms, which currently occurs in about 1 in 10,000 babies.

There is a little research on the causes of PD. Some assumptions are made, including issues such as severity of childhood abuse and neglect, as antecedent risks to the development of PD in adulthood. Mental factors and genes such as brain injury or a lack of serotonin is thought to be a part of the cause. (Cohen, et.al. 2001).

Mitochondrial dysfunction and oxidative stress have been consistently observed in brains of PD patients. There is increasing pharmacological and genetic evidence sustain a link between PD and mitochondrial respiratory chain dysfunction, particular a deficit in mitochondrial complex I (Franco-Iborra et al., 2015). Accidental exposure to 1-methyl-4-phenyl-1,2,3,4-tetrahydropyridine (MPTP), an mitochondrial complex I inhibitor, has been known to result in acute and irreversible syndrome that was almost indistinguishable from PD (Calne and Langston, 1983; Langston and Ballard, 1983). Later on, mitochondrial complex I inhibition has been identified in the brains of sporadic PD patients (Schapira et al., 1990). In addition, chronic systemic inhibition of mitochondrial complex I by pesticide rotenone has been found to link to sporadic PD (Betarbet et al., 2000). Interestingly, mitochondrial complex I deficiency has been found not only in the postmortem substantia nigra but also in cerebral cortex (Schapira et al., 1990), which is consistent to the cortical glucose hypometabolism observed in PD patients. Indeed, the pathology of PD has been found to involve several brain regions other than the SNc and many neurotransmitters other than dopamine (Lang and Obeso, 2004a, b). PD models using MPTP and rotenone have now been used extensively in PD research (Beal,

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

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.

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

In the United States, Phenylketonuria (PKU) affects about 1 in 10,000 to 15,000 newborn babies, making it a very uncommon genetic disorder (U.S National Library of Medicine, 2016). Phenylketonuria stems from an abundant buildup of an essential amino acid called phenylalanine that can become very dangerous when it reaches excessive levels (U.S.National Library of Medicine, 2016). The excessive buildup of phenylalanine is caused by an alteration in the gene which codes for the enzyme known as phenylalanine hydroxylase (PAH), which functions in breaking down the aforementioned essential amino acid phenylalanine (U.S National Library of Medicine, 2016). This genetic mutation is caused by an autosomal, recessive genetic mutation in chromosome 12 (Genetic Science Learning Center, 2016).

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,

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).

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

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