Phenylketonuria (PKU) is primarily caused by a genetic mutation in the PAH gene, which is responsible for producing the enzyme phenylalanine hydroxylase that breaks down the amino acid phenylalanine. Risk factors include having a family history of PKU, as it is inherited in an autosomal recessive manner, meaning both parents must carry the mutated gene for a child to be affected. Additionally, certain populations, such as those of Northern European or Asian descent, have a higher prevalence of PKU due to the genetic makeup of these groups. Early diagnosis and dietary management are crucial to prevent the neurological damage associated with elevated phenylalanine levels.
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Phenylketonuria causes delayed mental and social skills, below average head size, hyperactivity, skin rashes, seizures, tremors, and intellectual disability.
Elizabeth Jane Munro Hinchley has written: 'A study of nutritional factors in phenylketonuria' -- subject(s): Phenylketonuria, Nutrition
phenylketonuria
The best treatment of phenylketonuria is a diet that is extremely low in phenylalanine during childhood. A person can also take fish oil supplements and iron supplements to help treat some of the symptoms.
phenylketonuria
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It is possible for a parent with phenylketonuria to pass the condition to their offspring if both parents are carriers of the PKU gene mutation. In this case, there is a 25% chance that their child will inherit two copies of the mutated gene and develop phenylketonuria. Genetic testing can provide more information on the risk of passing PKU to offspring.
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Potential causes and risk factors for anorexia nervosa, excluding body dysmorphia, may include genetic predisposition, psychological factors such as low self-esteem or perfectionism, societal pressure to be thin, and environmental factors like trauma or stressful life events.
Phenylketonuria (PKU) is not an eating disorder. It is an inherited disorder which the body cannot break down phenylalanine, which is a part of protein. If PKU is not treated soon after birth, it can cause brain and nervous system damage.
2.42% of the world's population has Phenylketonuria (pku)