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What is the primary purpose of genetic counseling and screening in PKU management?
What is the primary purpose of genetic counseling and screening in PKU management?
What is a critical aspect of nutrition therapy in PKU management?
What is a critical aspect of nutrition therapy in PKU management?
What is a common consequence of untreated growth hormone deficiency in children?
What is a common consequence of untreated growth hormone deficiency in children?
What is a possible cause of growth hormone deficiency in children?
What is a possible cause of growth hormone deficiency in children?
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What is the primary goal of early screening in PKU management?
What is the primary goal of early screening in PKU management?
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What is a key aspect of psychological support in PKU management?
What is a key aspect of psychological support in PKU management?
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What is a characteristic of children with growth hormone deficiency at birth?
What is a characteristic of children with growth hormone deficiency at birth?
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What is the primary focus of nutrition therapy in metabolic disorder prevention?
What is the primary focus of nutrition therapy in metabolic disorder prevention?
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What is the primary reason for a false negative result in a screening test for PKU done two to four days after birth?
What is the primary reason for a false negative result in a screening test for PKU done two to four days after birth?
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What is the purpose of dietary management in PKU?
What is the purpose of dietary management in PKU?
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What is the recommended diet for PKU patients after full brain development?
What is the recommended diet for PKU patients after full brain development?
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What is the purpose of ferric chloride urine test?
What is the purpose of ferric chloride urine test?
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Why is apple allowed in the diet of PKU patients?
Why is apple allowed in the diet of PKU patients?
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What is the recommended range for phenylalanine levels in PKU patients?
What is the recommended range for phenylalanine levels in PKU patients?
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What is the consequence of high levels of phenylalanine in PKU patients?
What is the consequence of high levels of phenylalanine in PKU patients?
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What is the purpose of lofenalac in PKU management?
What is the purpose of lofenalac in PKU management?
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What is the primary goal of dietary management for phenylketonuria (PKU) patients?
What is the primary goal of dietary management for phenylketonuria (PKU) patients?
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What is the consequence of sudden withdrawal of high-dose steroids in individuals with adrenal insufficiency?
What is the consequence of sudden withdrawal of high-dose steroids in individuals with adrenal insufficiency?
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What is the primary mechanism of inheritance for phenylketonuria (PKU)?
What is the primary mechanism of inheritance for phenylketonuria (PKU)?
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What is the primary purpose of genetic counseling in families with a history of phenylketonuria (PKU)?
What is the primary purpose of genetic counseling in families with a history of phenylketonuria (PKU)?
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What is the characteristic musty odor of urine associated with in phenylketonuria (PKU) patients?
What is the characteristic musty odor of urine associated with in phenylketonuria (PKU) patients?
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What is the primary diagnostic tool for phenylketonuria (PKU)?
What is the primary diagnostic tool for phenylketonuria (PKU)?
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What is the primary consequence of untreated phenylketonuria (PKU)?
What is the primary consequence of untreated phenylketonuria (PKU)?
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What is the primary goal of nutrition therapy in phenylketonuria (PKU) patients?
What is the primary goal of nutrition therapy in phenylketonuria (PKU) patients?
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Study Notes
Growth Hormone Deficiency
- Deficient production of human growth hormone (GH) can lead to short stature in children.
- Causes of GH deficiency may include a nonmalignant cystic tumor of embryonic origin, increased intracranial pressure due to trauma, or a genetic origin.
- Children with GH deficiency may appear well-proportioned but measure well below the average on a standard growth chart.
- If left untreated, most children with GH deficiency will not reach more than 3 or 4 ft in height.
Phenylketonuria (PKU)
- PKU is an inherited condition caused by an autosomal recessive gene.
- It requires two parent-carriers for a 25% chance of the disease occurring in one out of four children.
- PKU is an inborn error of metabolism resulting in decreased liver enzyme phenylalanine hydroxylase, leading to the absence of decreased metabolism of the amino acid phenylalanine to tyrosine.
- Symptoms of PKU include brain damage, mental retardation, blond hair, blue eyes, and fair skin due to the absence of melanin.
Diagnosis of PKU
- Screening test done for two to four days after birth, which may result in a false negative if the newborn had no adequate protein intake during testing.
- Ferric chloride urine test is an effective follow-up screening test done in the community by the community health nurse, but only effective when the infant is over two weeks old.
- Guthrie capillary blood test is another diagnostic procedure for PKU.
Therapeutic Management of PKU
- Dietary treatment involves a phenylalanine-free formula, such as lofenalac, to prevent mental retardation.
- Low-protein, low-phenylalanine diet is recommended after full brain development.
- Dietary management aims to maintain phenylalanine at a safe level between 3-7 mg/100mL to prevent mental retardation.
Nursing Care for PKU
- Implement dietary management to prevent high levels of phenylalanine.
- Restrict foods high in phenylalanine and protein, such as meat, eggs, green vegetables, and fruits.
- Allow apple, which is low in phenylalanine, in the diet.
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Description
This quiz covers the importance of nutrition referrals, health teaching, and genetic counseling for preventing mental retardation. It also discusses the role of dietary regimen compliance and early screening.
