Autosomal Recessive Genetic Disorders

Autosomal Recessive Genetic Disorders

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    No, phenylketonuria cannot be prevented. It is a genetic disorder that is passed down from the parents to the child. The disorder is caused by a mutation of the PAH gene. The child inherits the disorder by getting defective PAH genes from each parent.

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    Tyrosinemia is inherited from both parents as an inborn error of metabolism. The features of the disease are similar to other end stage liver diseases: slow growth, enlarged liver and spleen, an increased tendency to bleed and a distended abdomen. Early liver transplantation is indicated for these patients because of a high incidence of secondary liver cancer.

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    A phenylketonuria (PKU) diet is the most effective method to manage phenylketonuria on a daily basis. This diet should be low in protein, limiting the intake of meat, eggs, cheese, beans, soybeans, and certain breads and cereals. The diet should be rich in vegetables, fruits, and low-protein breads and cereals. Nutritional supplements are available for infants, children, and adults. The medication sapropterin dihydrochloride (Kuvan) is also available to help manage symptoms of the disorder.

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    Without treatment, hereditary hemochromatosis can cause the pancreas, the liver, and the heart to fail, leading to diabetes, cirrhosis, and heart disease. In many patients, the buildup of iron eventually becomes so excessive that it visibly shows up in the skin, turning it a dark gray or bronze color. In fact, hemochromatosis is sometimes referred to as "bronze diabetes" because of the appearance of some patients when they are diagnosed.
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    Batten disease is diagnosed in several ways. Doctors start off with an examination of your child's eyes to distinguish whether cells have been lost in them. To further confirm, your child's doctor may also refer them to a neurologist. Skin and tissue samples are usually taken to look for an increased growth of protein and fat materials called lipopigments. An electroencephalogram (EEG) is performed on the scalp to identify seizures. Brain scans, genetic DNA testing, and electrical testing on the eyes are also performed. A test known as an enzyme assay may also be performed to determine if your child is missing certain enzymes to assist in the diagnosis of Batten disease.

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    There are several things that you can do to mange your Batten disease on a daily basis. You can talk to your doctor about taking anticonvulsant medications to control your seizures. You can also talk to your doctor about taking vitamins C and E to slow the progress of the disease. Your doctor may also suggest occupational and physical therapy to improve your strength and help you function better on a daily basis.

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    In the United States, phenylketonuria is most often diagnosed by a routine newborn screening blood test. This screening test may be confirmed with additional blood or urine tests. If both parents are tested and both are positive defective gene, their child has a 25 percent chance of having the disorder. Parents affected by phenylketonuria may test a fetus using genetic tests like chorionic villus sampling or amniocentesis.

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    If there is a history of galactosemia in your family, a genetic counselor can help answer questions about preventing or reducing the risk of galactosemia in your future offspring. If your child has galactosemia, genetic counseling can help determine whether other siblings or family members have this disorder (or are carriers) as well. While you cannot prevent galactosemia in a child who already has it, there are ways to control it. If you suspect that your child has galactosemia, take them off all dairy products and seek medical attention.

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    Batten disease affects the brain cells, the retina of the eye, the central nervous system, muscles, skin, and various other body tissues. This is due to the abnormal storage of lipopigments in these areas. Lipopigment storage causes the cells and tissue to die in the affected areas of the body. 

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    Symptoms of Batten disease include reduced vision and an increase in seizures in children five to ten years of age. Symptoms are not always obvious in the beginning stages. Some children's behavior and personality start to change and they become awkward and clumsy. Your child's learning ability may also be slower than other children. As the child gets older, their mental state and seizures also get worse. Your child's eyesight and motor skills may also deteriorate to the point of blindness. During the teen and young adult years, dementia usually develops, requiring confinement to a bed.