Phenylketonuria‚ referred to as PKU‚ is a rare inherited disorder that affects an individual’s physical and mental development throughout the lifespan. PKU is inherited in an autosomal recessive pattern‚ meaning both parents carry one copy of the mutated gene and each cell has mutations. The disorder may also be indicated as Deficiency Disease and Folling’s Disease. Welsh et al. (1990) stated that this disorder is caused by the deficiency of a liver enzyme called phenylalanine hydroxylase‚ which
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the substance which can be harmful to the body. In PKU‚ the baby is born without the ability to properly break down an amino acid called phenylalanine which is found in foods that contain protein. Since it cannot be broken down‚ phenylalanine levels become dangerously high and cause severe damage to the central nervous system. PKU is passed down to an infant by both parents who are carrying the gene but may not be aware of it. A PKU test is not done immediately after birth because the
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Joselin Ramirez March 7‚ 2012 Phenylketonuria (PKU) Phenylketonuria is a disease that was discovered by Dr. Asbjorn Folling in 1934. It is known that 1 out of 13‚000/19‚000 babies are born with this type of disease. Most people with Phenylketonuria can live healthy as everyone else. If the low phenylalanine diet is started when they are babies and continued for the rest of their lives. The symptoms will usually disappear after the diet is started. What doctors’ state about Phenylketonuria
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problems. Therefore‚ studies say PKU children require dietary intervention to maintain physical and mental health. Evidenced based articles suggest that doctors and dietitian to monitor micronutrients and micronutrients among
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with disabilities are entitled to FAPE. It is painfully recognizable that the cultural and religious beliefs influenced the diagnosis‚ treatment and acceptance of children with developmental disabilities. Autism disorder is a relatively young branch of developmentally disabled disorders. Autism was first recognizes
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Intro: PKU (Phenylketonuria) is a genetic disorder where the body lacks a certain enzyme which breaks down PHE‚ which in turn leads to dangerous build up of PHE. History: PKU was discovered in 1934 in Norway by Dr. Asbjørn Følling. A mom of two kids came to him in dire need of help after being denied by many doctors. She was denied because the doctors failed to realize what was wrong with the children. He was told of their unusual appetites and behaviors and was unable to come up with a diagnosis
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Autism is a mental disease or disorder characterized by difficulties and problems in talking‚ interacting‚ communicating and performing activities. Autism is characterized in many different degrees‚ one worse than the other. The disorder is commonly established in the first 2 years of age; anyhow‚ they are autistic since the first day they were born. According to scientists‚ autism is much more likely in boys than in girls: one in 88 girls and I in 54 boys. Autism is the fastest growing disease in
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Autism is a serious developmental disorder that affects a child’s ability to communicate and interact with others. For reasons that are not clear‚ the disease is three to four times more common in boys than it is in girls. Children with autism often are self-absorbed and seem to exist in a private world where they are unable to successfully communicate and interact with others. They may have difficulties in developing language skills and understanding what others say to them. They may also have difficulties
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What is Autism? What Causes Autism? [pic] Autism is known as a complex developmental disability. Experts believe that Autism presents itself during the first three years of a person’s life. The condition is the result of a neurological disorder that has an effect on normal brain function‚ affecting development of the person’s communication and social interaction skills. People with autism have issues with non-verbal communication‚ a wide range of social interactions‚ and activities that include
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Introduction “Autism is a complex neurobehavioral disorder that includes impairments in social interaction and developmental language and communication skills‚ and rigid‚ repetitive behaviors” (WebMD‚ 2012a). In another words‚ autism is a lifelong disability that blocks the learning‚ language communication‚ emotional and social development of a child. Another way to define autism is that it is a developmental disorder that appears during the first 3 years of life‚ and affects the brain’s normal
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