Phenylketonuria

In: Science

Submitted By sgttweety
Words 966
Pages 4
Phenylketonuria (PKU) Test
A phenylketonuria (PKU) test is done to check whether a newborn baby has the enzyme needed to use phenylalanine in his or her body. Phenylalanine is an amino acid that is needed for normal growth and development. If a baby's body does not have the enzyme that changes phenylalanine into another amino acid called tyrosine, the phenylalanine level builds up in the baby's blood and can cause brain damage, seizures, and intellectual disability.
The damage caused by PKU can begin weeks after the baby has started drinking breast milk or formula. Babies with PKU need foods low in phenylalanine to prevent severe brain damage. Phenylalanine is found in most foods that have protein, such as milk, cheese, and meats.
It is important to find this disease early. All babies in the United States and Canada are tested for PKU right after birth. To have the disease, you must inherit the gene from each parent. The United States Preventive Services Task Force recommends that all newborns be tested for PKU.1
The blood sample for PKU is usually taken from your baby's heel (called a heel stick). The test is done in the first few days after birth, as early as 24 hours after birth. The test may be repeated within the first week or two after birth.
Why It Is Done
A phenylketonuria (PKU) screening test is done to see whether a newborn baby has the enzyme needed to use phenylalanine in his or her body. If this test shows that your baby has a phenylalanine problem, the doctor will do further testing to check whether your baby has PKU.
It's important for your baby to have this screening test soon after birth. If a baby has PKU and treatment starts right away, problems (such as brain damage) are less likely to occur.
How To Prepare
You do not need to do anything before your baby has this test.
How It Is Done
Your baby's heel is cleaned with alcohol, and then…...

Similar Documents

Different Types of Disorders

...Different types of disorders Project in Elective Definition: Phenylketonuria (PKU) is a rare condition in which a baby is born without the ability to properly break down an amino acid called phenylalanine. Described as an inborn error of amino acid metabolism, phenylketonuria (PKU) was the first genetic disorder found to be due to a specific enzyme deficiency, resulting in a patient's inability to metabolise a specific amino acid appropriately. Classical PKU is caused by a deficiency of the enzyme phenylalanine hydroxylase (PAH). Over 70 different mutations on the PAH gene found on Chromosome 12 have been found to cause the almost complete absence of PAH as seen in PKU patients. PKU patients deficient in PAH are unable to metabolise the amino acid phenylalanine leading to an accumulation of phenylalanine and it's metabolites within the body. PKU is an example of an autosomal recessive disorder. Causes Phenylketonuria (PKU) is inherited, which means it is passed down through families. Both parents must pass on the defective gene in order for a baby to have the condition. This is called an autosomal recessive trait. Babies with PKU are missing an enzyme called phenylalanine hydroxylase, which is needed to break down an essential amino acid called phenylalanine. The substance is found in foods that contain protein. Without the enzyme, levels of phenylalanine and two closely-related substances build up in the body. These substances are harmful to......

Words: 6140 - Pages: 25

Genetics and Public Health

...public health. Resources Spent On Genomics for Public Health Significant resources should not be allocated to genomics for public health. This is because genetic research is not necessary beneficial to all individuals. It mostly applies to specific persons due to their genetic makeup. Pubic health sector can prioritize by establishing which genetic research will be most beneficial to the population as a whole. The rest of the diseases are left out since their effects are not adverse. There is also the risk of possible misuse of genetic information (Laberge, 2004). Newborn genetic screening discovers treatable genetic disorders in newborn babies. Newborn screening for phenylketonuria is essential and beneficial as it helps prevent mental retardation in future. All newborns are screened for phenylketonuria this is because it influences the children’s ability to contribute to the society later. Nevertheless, newborn screening for Huntington disease is not given the first priority. This is because the disease appears later on in life and has no cure. There is no significant benefit to early diagnosis (Johnson KA, 2000).  Workplace genetic screening reduces occupational diseases. Owner of a company can utilize information from genetic testing to ensure that potential employees are not exposed in risky environments. However, the tests presently existing can make out only a small number of moderately rare diseases. The tests are expensive to carry out and hard to administer.......

Words: 1112 - Pages: 5

Biology

...neurogenesis before birth, maturation of neurons, and an increase of synaptic connectivity. 11. ?? 12. Apoptosis- Active cell death that occurs during brain development. Necrosis- Passive cell death that occurs because of an injury. 13. Critical periods: period of time where it is essential for an experience to occur in order to influence development. Sensitive period: when an experience can still have a weak effect outside the interval of time. 14. Tetrogens: Physical agents in utero: Trauma, fetal position or vrowding, hyperthermia, radiation. Infectious agents in utero: rubella virus, herpesvirus types 1 and 2, cytomegalovirus, mumps virus, varicella virus, Treponema pallidum, Tozoplasma gondii. Maternal metabolic derangement: Phenylketonuria, diabetes mellitus, toxemia fo pregnancy, malnutrition, hypoxia, Iodine deficiency. Maternal Toxin and drug exposure: Carbon monoxide, ethyl alcohol, cocaine and other substance abuse, antimetabolites, anticonvulsants, isotretinonin, hexaxhlorophene, vitamin excess or deficiency, methyl mercury, blighted potato?. 15. One chromosomal abnormality is Trisomy 21 which is called Down ’s Syndrome. It occurs when the 21 chromosome fails to separate causing there to be 3 21 chromosomes. 16. ?? 17. ?? 18. Myelination is the biggest factor that attributes to the increase in brain weight during the first 5 years of life. 19. Williams Syndrome and Autism are different from a neuropsychological perspective because Autistic children......

Words: 504 - Pages: 3

Educating Special Needs Students

...cause a child to learn and develop more slowly than a typical child. Children with mental retardation may take longer to learn to speak, walk, and take care of their personal needs such as dressing or eating. They are likely to have trouble learning in school. They will learn, but it will take them longer. There may be some things they cannot learn. As mention in the beginning there has been more than 750 causes of mental retardation which has been identified (Heward, 2006)”, some of the most common are: • “Genetic conditions. Sometimes mental retardation is caused by abnormal genes inherited from parents, errors when genes combine, or other reasons. Examples of genetic conditions are Down syndrome, fragile X syndrome, and phenylketonuria (PKU). • Problems during pregnancy. Mental retardation can result when the baby does not develop inside the mother properly. For example, there may be a problem with the way the baby's cells divide as it grows. A woman who drinks alcohol or gets an infection like rubella during pregnancy may also have a baby with mental retardation. • Problems at birth. If a baby has problems during labor and birth, such as not getting enough oxygen, he or she may have mental retardation. • Health problems. Diseases like whooping cough, the measles, or meningitis can cause mental retardation. Mental retardation can also be caused by extreme malnutrition (not eating right), not getting enough medical care, or by......

Words: 888 - Pages: 4

Analysis

...people but some may be different in some people in the world. Alleles are made up of the same genes with little differences within ones DNA; which determines ones physical features. The body contains twenty three chromosomes and twenty two of them are called autosomes. There is something called a sex chromosome which determines the sex from the twenty third chromosome. Nucleotides contains an organic base, sugar, and phosphoric acid. Chapter 10 Genes are a reference to major roles in inheritance; the method that particular traits or are distributed down from generation to generation. Genes carries the directives for making proteins, and it directs the actions of cells and how the human body functions, such as Huntington’s disease and phenylketonuria (PKU). Genomes designates the revision of all of an individual's genes (the genome). Interactions of those genes forms within one another and their surroundings. Genomics comprises the dynamics of complex diseases such as heart disease, asthma, diabetes, and cancer. These particular ailments are affected furthermore by a amalgamation of genetic and environmental aspects than by individual genes....

Words: 477 - Pages: 2

Autism from a Neurological Standpoint

...research concerning autism's neural mechanisms have recently emerged. Based on the observation that individuals with autism spend less time looking at faces than normal, researchers discovered that the fusiform face area shows less fMRI activity. Another study demonstrated that fMRI activity in the cortex is not displayed in children with autism when observing others doing tasks, unlike fMRI activity found in children without autism (Pinel, 2009). This correlates to the lack of empathy and inability to take the perspective of other individuals that is seen in autistic individuals. Evidence points to genetics being a prevalent cause of autism. Some single gene disorders with a higher than expected prevalence are tuberous schlerosis, phenylketonuria, neurofibromatosis, and fragile X. In autism cases of an unknown etiology, twin and family studies show 5-10 births per thousand will result in autism. The recurrence risk of a next-born sibling of an autistic child is 50-200 times as great as the normal rate,. Identical twins of an autistic sibling have about a 50% prevalence, and non-identical twins have the same prevalence rate as the regular sibling rate. While it is pretty clear that genetics play a role in autism, the occurrence of genetically identical twins not developing the disorder suggests differences in environmental risk factors. These risks include pre- or peri-natal difficulties, and viral or toxin exposure (Folstein, 1999). An example of an environmental toxin......

Words: 1053 - Pages: 5

Ethical Treatment of Animals

...in today’s medicines. The drugs that genetically modified animals can produce – blood components, replacement proteins, antibodies, and xenotransplants remain among the most expensive drugs to produce in the world. Genetically engineered animals can deliver substantial improvements in terms of cost, safety and availability of urgently need drugs and treatments, thus bringing substantial public health benefits (Wagner, J. 2001). Researchers have already produced Insulin, growth hormones and blood anti-clotting factors from the milk of genetically engineered Cows. Research is still ongoing to manufacture milk, through Transgensis, from genetically modified Cows, Sheep/Goats, for the treatment of debilitating disease such as Phenylketonuria (PKU), hereditary Emphysema, and Cystic Fibrosis. Scientists are also doing research on genetically engineered Pigs in the hopes of one day being able to produce human organs needed for transplants, such as heart, liver and kidney. It never ceases to amaze me the wonderful advancements Science can provide us with. Maybe with all the research that is going on around the world, one of those scientists can finally discover the cure for Cancer and the other horrible life taking diseases. References: Edge, A.S., (1991). “Xenogenic cell therapy: Current progress and future developments in porcine cell transplantations”. Cell Transplantation, 7(6): 525-868. Doi:10.1016/SO963-6897 (98)......

Words: 784 - Pages: 4

Seizure

...All types of seizures are caused by disorganised and sudden electrical activity in the brain. The causes of seizures can include: * Abnormal levels of sodium or glucose in the blood * Brain infection including meningitis * Brain injury that occurs to the baby during childbirth * Brain problems that occur before birth (congenital brain defects) * Brain tumour (rare) * Drug abuse * Electric shock * Epilepsy * Fever ( particularly in young children) * Head injury * Heart disease * Heat illness (heat intolerance) * High fever * Phenylketonuria (PKU) which can cause seizures in infants * Poisoning * Street drugs such as angel dust (PCP), cocaine, amphetamines * Stroke * Toxaemia of pregnancy * Toxin build up in the body due to liver or kidney failure * Very high blood pressure (malignant hypertension) * Venomous bites and stings (snake bite) * Withdrawal from alcohol or certain medicines after using for a long time. However, there are seizures that causes cannot be found which is called idiopathic seizures. It usually seen in children and young adults but can occur at any age. It could be a family history of epilepsy or seizures. Common causes of seizures by age: In Newborns: * Lack of oxygen during birth * Brain malformations * Low levels of blood sugar, blood calcium, blood magnesium or other electrolyte disturbances * Inborn errors of metabolism * Intracranial......

Words: 379 - Pages: 2

Test

...According to the United States Census Bureau, approximately 3, 890,000 infants are born each year. Since the 1960s, each individual born in a hospital is screened soon after birth for medical conditions such as phenylketonuria and sickle cell anemia via obtaining a few drops of blood from the baby’s heel as part of standard hospital procedure, irrespective of parental consent. These tests commonly analyze hormone and protein content from the samples. Each state oversees their own screening program and currently there is little uniformity among the conditions studied. The costs of these tests vary from $15 to $60 and are often covered through state fees and by health insurance plans. The addition of mandatory postnatal genome sequencing would add a tremendous burden to the healthcare system. Whole genome sequencing tests can currently cost around $1000, creating a deficit of around 4 billion dollars a year. Parents would be required to meet with a genetic counselor to interpret the data and the functionality of many genes has yet to be discovered. There is room for tremendous ambiguity without prior research and a shortage of qualified individuals to interpret all the data. False positive test results for genetic tests occur, on average, more than 50 times per every true positive finding according to a study conducted by Kwon et al from JAMA Pediatrics. This could potentially lead to an increase of vulnerable child syndrome, a condition that affects the family of an infant or...

Words: 551 - Pages: 3

Bio 100

...lines of defense. 12. Why is your immune system usually more effective at fighting off infection the second time you are exposed to a pathogen? 13. Breastfeeding has an additional effect in many women. The hormones important for producing milk and causing milk to be released in reaction to suckling also inhibit the pituitary gland from releasing the hormones needed for initiating ovulation in the ovaries. What might be a logical adaptive significance of this hormone feedback system? 14. Both the nervous system and the endocrine system are used to convey messages throughout the body and coordinate organs, systems, and behavior. Compare and contrast how these two systems function. 15. In the genetic disorder phenylketonuria (PKU), a single reaction is blocked in a normal metabolic pathway sequence and the amino acid phenylalanine cannot be converted to the next chemical step. Phenylalanine, an essential amino acid, builds up in the body and high levels affect the nervous system and may lead to mental retardation. What would be a logical treatment for this disorder? 16. A small area of the temporal lobe of our cerebral cortex is dedicated to learning faces and recognizing small changes in facial muscles that enable us to “read others’ minds.” What might be the most logical evolutionary argument for this adaptation? 17. Emphysema can be a serious disease, but it damages not only your lungs but often the heart. Why does a respiratory......

Words: 725 - Pages: 3

Newbornsreening

...blood samples collected on specialized filter paper, however many areas are starting to screen infants for hearing loss using automated auditory brainstem response and congenital heart defects using pulse oximetry. Infants who screen positive undergo further testing to determine if they are truly affected with a disease or if the test result was a false positive. Follow-up testing is typically coordinated between geneticists and the infant's pediatrician or primary care physician. Newborn screening debuted as a public health program in the United States in the early 1960s, and has expanded to countries around the world, with different testing menus in each country. The first disorder detected by modern newborn screening programs was phenylketonuria, a metabolic condition in which the inability to degrade the essential amino acid phenylalanine can cause irreversible mental retardation unless detected early. With early detection and dietary management, the negative effects of the disease can be largely eliminated. Robert Guthrie developed a simple method using a bacterial inhibition assay that could detect high levels of phenylalanine in blood shortly after a baby was born. Guthrie also pioneered the collection of blood on filter paper which could be easily transported, recognizing the need for a simple system if the scre...

Words: 314 - Pages: 2

Hca 240 Slingshot Academy / Snaptutorial.Com

...societal changes can help reverse the obesity epidemic? Reference Mulvihill, M. L., Zelman, M., Holdaway, P., Tompary, E., & Raymond, J. (2006) Instructor’s resource manual: Human diseases: A systemic approach (6th ed.). Upper Saddle River, NJ: Pearson Prentice Hall. ------------------------------------------------------------------------------------------ HCA 240 Week 1 DQ 2(2 Sets) For more classes visit www.snaptutorial.com • Resource: healthfinder® Web site at http://healthfinder.gov/ • Due Date: Day 4 [post to the Main forum] • Select a genetic disorder from the list below. o Huntington’s disease HCA 240 Health and Diseases Course Syllabus Page 12 o Achondroplasia o Cystic fibrosis o Sickle cell anemia o Phenylketonuria o Down syndrome • Navigate to the healthfinder® Web site. • Use the alphabetic index under Diseases, Conditions and Injuries on the left side of the page to locate your selected genetic disorder. • Post your response to the following: Describe to a 7th-grade student what they would expect to see if a person was diagnosed with your selected genetic disorder. How would you express the disease symptoms and at least one current treatment method in a way the student could easily understand? • Respond to your classmates’ posts by asking clarification questions a 7th-grade science student would ask. ------------------------------------------------------------------------------------------ HCA 240 Week 2 Assignment HIV AIDS......

Words: 821 - Pages: 4

Hca 240 Tutor Empowering and Inspiring/Hca240Tutor.Com

...are direct consequences of the obesity epidemic? What individual and societal changes can help reverse the obesity epidemic? Reference Mulvihill, M. L., Zelman, M., Holdaway, P., Tompary, E., & Raymond, J. (2006) Instructor’s resource manual: Human diseases: A systemic approach (6th ed.). Upper Saddle River, NJ: Pearson Prentice Hall. …………………………………………………………… HCA 240 Week 1 DQ 2(2 Sets) FOR MORE CLASSES VISIT www.hca240tutor.com • Resource: healthfinder® Web site at http://healthfinder.gov/ • Due Date: Day 4 [post to the Main forum] • Select a genetic disorder from the list below. o Huntington’s disease HCA 240 Health and Diseases Course Syllabus Page 12 o Achondroplasia o Cystic fibrosis o Sickle cell anemia o Phenylketonuria o Down syndrome • Navigate to the healthfinder® Web site. • Use the alphabetic index under Diseases, Conditions and Injuries on the left side of the page to locate your selected genetic disorder. • Post your response to the following: Describe to a 7th-grade student what they would expect to see if a person was diagnosed with your selected genetic disorder. How would you express the disease symptoms and at least one current treatment method in a way the student could easily understand? • Respond to your classmates’ posts by asking clarification questions a 7th-grade science student would ask. …………………………………………………………… HCA 240 Week 2 Assignment HIV AIDS An Overview (2 Sets) FOR MORE CLASSES VISIT......

Words: 1169 - Pages: 5

Birth Defects

...child is born with an abnormality until various tests are done to come to the conclusion that there may be something wrong with a child. Structural or metabolic abnormalities include heart defects and neural defects where some part of the body, internal or external, is missing or malformed. Recessive genetic diseases which are diseases that result from the inability of cells to produce and enzyme needed to change certain chemicals into others to carry substances throughout the body.  Most children with a metabolic birth defect do not have any visible abnormalities, but metabolic defects are usually harmful or can be even fatal. Metabolic defects include Tay-Sachs disease, a fatal disease that affects the central nervous system, and phenylketonuria (PKU), which affects the way the body processes protein. Congenital infections are infections the baby can be born with, such as rubella, cytomegalovirus (CMV), or any sexually transmitted diseases, however, none of these affect 100% of babies whose mothers are infected during pregnancy. If the mother is infected during early pregnancy, rubella carries the highest risk for birth defects because of nearly universal immunization in the United States, rubella is very rare and the congenital rubella syndrome is almost never seen. On the other hand, CMV is probably the most common congenital infection and may be associated with intellectual disability (mental retardation) and hearing loss. Other causes of birth defects include......

Words: 528 - Pages: 3