phenylketonuria is a genetic disorder that quizlet Recessive genetic phenylketonuria autosomal disease gaucher inheritance disorder symptoms pattern disorders dubai gene counseling ar genetics mutation auto counselor causes
PKU (Phenylketonuria) is a rare genetic disorder that affects the way the body processes the amino acid phenylalanine. This disorder is caused by a mutation in the gene that produces the enzyme needed to break down phenylalanine. As a result, phenylalanine builds up to toxic levels in the blood and can cause severe health problems if not managed properly.
Genetics of PKU
Phenylketonuria is an autosomal recessive disorder, which means that both parents must carry the gene mutation for a child to inherit the condition. If both parents carry the mutated gene, there is a 25% chance with each pregnancy that the child will have PKU.
When a child is born with PKU, it means that they have inherited two copies of the mutated gene - one from each parent. These gene mutations prevent the production of a specific enzyme called phenylalanine hydroxylase. Without this enzyme, the body cannot properly break down phenylalanine, leading to its toxic buildup.
Symptoms of PKU
The signs and symptoms of PKU can vary in severity from person to person. Newborn babies with PKU typically appear normal at birth, but without treatment, phenylalanine levels in their blood begin to rise rapidly. The high levels of phenylalanine can affect brain development, causing intellectual disability and other neurocognitive problems.
Some of the common symptoms of PKU include:
- Delayed development
- Mental retardation
- Hyperactivity
- Skin rashes
- Musty odor in the breath, skin, or urine
Diagnosis
PKU is typically diagnosed soon after birth through routine newborn screening tests. These tests involve taking a small blood sample from the baby’s heel or hand and analyzing it for various genetic disorders, including PKU.
If a high level of phenylalanine is detected in the blood, further tests are performed to confirm the diagnosis. Genetic testing is also carried out to identify the specific gene mutations responsible for PKU.
Treatment of PKU
The main treatment for PKU involves a strict diet that restricts the intake of foods containing phenylalanine. By carefully monitoring their phenylalanine intake and avoiding high-protein foods, individuals with PKU can prevent the toxic buildup of phenylalanine in their blood.
Medical professionals, such as dieticians and nutritionists, work closely with PKU patients to develop a customized diet plan. Special formulas and foods low in phenylalanine are often recommended. Regular monitoring of phenylalanine levels in the blood is also necessary.
Living with PKU
Living with PKU can be challenging, but with proper management and treatment, individuals with the disorder can lead healthy and fulfilling lives. Adhering to a low-phenylalanine diet is essential throughout a person’s life to prevent the serious health complications associated with PKU.
It is important for individuals with PKU to work closely with healthcare professionals to ensure they receive adequate nutrients and maintain a balanced diet. Regular check-ups and monitoring of phenylalanine levels are crucial to adjust the diet plan as needed.
Conclusion
Phenylketonuria (PKU) is a genetic disorder that affects the body’s ability to process phenylalanine. It is important to diagnose and treat PKU early to prevent serious health complications, particularly related to brain development. Through a carefully controlled diet and regular monitoring, individuals with PKU can effectively manage their condition and enjoy a healthy and fulfilling life.
Sources:
- “PKU (Phenylketonuria) Genetics Causes Symptoms Diagnosis Treatment.” Retrieved from https://i.ytimg.com/vi/pRGawdwROMU/maxresdefault.jpg.
- “Phenylketonuria.” Retrieved from http://www.newbornscreening.info/Parents/aminoaciddisorders/Images/phenylketonuria.gif.
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