Phenylketonuria is the inability to metabolize the phenylalanine, which damages the brain and nerves. Phenylketonuria is an inherited disorder that increases the levels of phenylalanine in the blood. Basically, phenylalanine is the building block of amino acids and found in all proteins. If Phenylketonuria isn’t treated, it can create a build up of phenylalanine that can be harmful to the body. If left untreated, it can cause intellectual disability and slow growth and brain damage. The symptoms of Phenylketonuria include: delayed development, slow growth, and intellectual disability. To be diagnosed with Phenylketonuria, individuals would receive a blood test and doctors would search for the enzyme that breakdowns phenylalanine. Risk factors …show more content…
People with the less severe form of PKU aren’t required to have a low-phenylalanine diet. Regardless of the severity, phenylketonuria is a genetic condition that causes phenylalanine (essential amino acid) to build up. An essential amino acid is an amino acid that the body can’t produce; therefore, it the amino acid is only found in food. Phenylalanine is found in all proteins and uses “phenylalanine hydroxylase to convert phenylalanine into tyrosine” (Cabello J. 2014). Tyrosine is needed because it produces neurotransmitters such as epinephrine, dopamine, and norepinephrine (Cederbaum S. 2012). Phenylketonuria is caused by a deficiency of the gene that created phenylalanine hydroxylase. When there is a lack of phenylalanine hydroxylase, phenylalanine isn’t being broken down; therefore, it causes a buildup of the excess …show more content…
The PAH gene provides instructions to create phenylalanine hydroxylase. Phenylalanine hydroxylase is responsible for breaking down phenylalanine. If the body lacks phenylalanine hydroxylase, it leaves a dangerous buildup of phenylalanine. This can affect a person who eats meat and eggs and foods high in protein, because they will have excess phenylalanine stored in their body. The parents must pass a defective version of the PAH gene for the child to inherit the disorder (Cederbaum S. 2012). In other words, both parents have to carry the altered PAH gene for the child to have Phenylketonuria. If one parent has the gene, the child would carry the defective PAH gene but wouldn’t show any
At birth, children with familial dysautonomia are diagnosed by a distinct set of symptoms. (FD Facts) Poor muscle tone and lack of tears are two symptoms that can be detected very early. As they get older they have a hard time maintaining body temperature, they hold their breath for long periods of time and have a delay in speech and walking. The cause of these symptoms is due to a defect IKBKAP gene. Someone with familial dysautonomia has two copies of IKBKAP in each cell, which means a mutation occurred. This mutation disrupts the information in the IKBKAP gene that helps the production of IKAP protein. The IKAP protein is used for brain functions but when the mutation occurs, not enough of the proteins are made for the brain to function properly...
This occurs when the systemic arterial blood is above 26mEq/liter and the blood pH is above 7.45 (Tortora, 2014). The cause of metabolic alkalosis is too much bicarbonate in the blood, prolonged vomiting, and extreme lack of potassium. When the regular compensatory mechanisms are not working, respiratory compensation through hypoventilation help bring back pH level to normal leaving HCO3- high. Lung assist in compensatory mechanism. Treating metabolic alkalosis consist of correcting Cl-, K+, and other electrolyte deficiencies by providing fluid solutions. Older age compromises the acid-base balance in metabolic alkalosis due to inadequate fluid intake of more water than Na+ which occur through vomiting, feces, or urine. These changes are associated with the kidney.
Sweet smelling urine happens all them time along with feeding difficulties, poor weight gain, and mental retardation. Comas happen in irregulars patterns along with lethargy, seizures, vomiting, and nausea. This happens because the acids that BCKD is suppose to break down is building up and because of that, it also makes it’s byproduct, keto acid, and too much of this acid is toxic and that is why you face comas and the other symptoms.
Adrenoleukodystrophy is a sex-linked trait carried on the X-chromosome and is carried by the mother. It is only passed on to male children, and every male child that a carrier mother gives birth to has a fifty-fifty chance of acquiring adrenoleukodystrophy. Adrenoleukodystrophy, more commonly called ALD, affects the nervous system. The inability to break down fatty acids causes demyelination of the nerves in the brain, spinal cord, and other areas of the body. Myelin is the insulating sheath around a nerve, and is broken down during demyelination. Once the myelin disappears, nerves will start to short-circuit and stop working. Symptoms can include seizures, tantrums, and mood-swings. ALD generally occurs in one of three main forms. In the first form, which is also the most common, occurs in young male children, usually before they reach the age of twelve. Although this is the most severe form, causing loss of the function of the brain and nervous system, it has the most available treatments. The second form, which is usually present in adults, is characterized by a gradual loss of nerve function, much like that of multiple sclerosis. It has also been misdiagnosed by some inexperienced or uninformed doctors as MS, which may lend some insight as to the similarities between the two diseases. Unfortunately, there are no “recognized” treatments for this form of the disease. The third form is very similar to Addison’s Disease, in which the VLCFA build up in the adrenal glands, and they lose their function. For this form though, there are treatments available.
performance. Without the correct amount of any of the twenty amino acids, the body will
PD is one of the most common neurodegenerative diseases that afflict about 1% of individuals over the age of 65 and its occurrence increases by age. Its symptoms are characterized typically by slow but progressive neurological and non-neurological disabilities such as tremor, memory problems, declining sense of smell, rigidity, drooling, and constipation. PD is also commonly associated with other psychiatric diseases e.g. depression, anxiety and psychosis.
Clinical diagnosis of PD is currently solely dependent on the presentation of the symptoms by the patient which reflect a deficiency of striatal dopamine caused by the destruction of the cells in the substantia nigra. Imaging and other laboratory techniques can be used to rule out other disorders, but are not necessary for the actual diagnosis of PD. The first sign of PA is usually bradykinesia. Movements are usually quite slow. Routine activities may require deliberate planning and thought for execution. Difficulty initiating movements or akinesia, may also be present. Rigidity in the flexors is also present. This is due to an exaggerated response to normal proprioceptive return from the somatic musculature. A resting tremor of 3-6 Hz is also a prominent feature of PD. This may cause difficulties in handwriting as a symptom. Impaired postural reflexes is also a presenting feature in PD. Patients can easily lose their balance when pushed slightly, and may need to be caught to keep from falling. These signs can be tested by observing the patients walking, getting out of deep chairs, and performing rapid repetitive movements. Increased disturbances in cognitive abilities can also show evidence of PD. Even with all these signs of PD, it may be present and undiagnosed f...
PD is known to be idiopathic, however, many studies have found that a combination of genetic and environmental factors are associated with the development of PD. Environmental risk factors include the use of pesticides, living in a rural environment, consumption of well water, and proximity to industrial plants or quarries. The genetic causes also have been studied and it was found that a genetic cause for the development of PD accounts for 5% of all cases (Hauser et al. 2010). Medications that block dopamine receptors also are considered to be a cause for the development of Parkinson disease. Int...
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.
...ystems action leading to coma and death. Alkalosis is when the bloods pH increases to become more alkaline, it results in over excitement of the nervous system leading to convulsions. There are key pH changers that can occur; vomiting can lead to alkalosis, diarrhea can lead to acidosis. Kidney disfunction could happen either way, if the kidneys get messed up then blood pH can be all over the place.
Since the gene for HD is dominant, there is a 50% chance of a sufferer's
This can result in single gene disorders that may or may not be life threatening depending on the mutation. For example, the Maple Syrup Urine Disorder, or MSUD, is a potentially fatal disease that disables the body from breaking down valine, leucine and isoleucine. These three amino acids are used to build proteins and are eventually broken down by branched –chain alpha ketoacid dehydrogenase (BCKD). Individuals who are affected by MSUD have a mutation that lack one of the six proteins that assist in the breakdown of the three amino acids. As a result, increased levels of valine, leucine and isoleucine end up in the blood stream and cause degradation of brain cells. In order for the disease to be inherited the child must obtain an altered gene from each parent, which makes MSUD an autosomal recessive
Polycystic Kidney Disease, often referred to as PKD, is a genetic disorder passed down through families and involving bilateral renal cysts, usually without abnormality. The kidneys are located in the upper part of the abdomen, toward the back, and about the size of one’s fist. They filter waste and unneeded fluid from the blood and form urine. When cysts form in or on the kidneys they fill with fluid and become enlarged. The enlargement of the kidneys will result in decreased function and eventually kidney failure. There are two major forms of PKD, autosomal dominant (ADPKD) and autosomal recessive (ARPKD). Both of these can involve the presence of renal cysts at any time during an affected person’s life, from prenatal stages into adulthood.
The signs and symptoms of PKU always very from mild to severe most of the time the severe case is found in infants who the infant appears perfectly normal until four to eight months or more down the road. With treatment being ignored the patient would show signs and symptoms of seizures, delayed development, behavioral problems, and psychiatric disorders these are the most sign and symptoms that are seen. Patients that go untreated will develop a musty or mouse like odor which is noted as a side effect of phenylalanine. Children with PKU show lighter skin and hair than those children who are not affected with PKU. A mutation found in the PAH gene that leads to formation of a nonfunctional ph...
In order to prevent kwashiorkor from ever developing, it is important to make sure to follow the nutritional guidelines and have a balanced diet of carbohydrates, fat, and protein. Kwashiorkor can most simply be prevented by making sure that a child eats enough protein after they are weaned off of their mother’s milk (Rossouw 1989). Often times, in third world countries the children are weaned off their mother’s milk and then put onto a maize diet that does not offer adequate amounts of protein rich food. The Estimated Average Requirement (EAR) “for protein is 0.66 grams of protein/kg of body weight. The EAR for protein increases during pregnancy, breastfeeding, period of rapid growth, or recovery from serious illnesses, blood losses, and burns” (Schiff 2013). The Center for Disease Control and Prevention (CDC) recommends that 10 to 35 percent of a person’s daily caloric intake come from protein. Furthermore, in order to prevent kwashiorkor from developing, children ages 1-3 years need to have 5-20 percent of their energy from protein, children ages 4-18 years need 10-30 percent from protein, and adults need 10-35 percent protein. In other words, kwashiorkor is an avertible disease that can be prevented if infants and children are consuming at