24 Questions
What is the primary purpose of genetic counseling and screening in PKU management?
To prevent mental retardation through early detection and dietary regimen
What is a critical aspect of nutrition therapy in PKU management?
Instructing patients on indicated and contraindicated foods
What is a common consequence of untreated growth hormone deficiency in children?
Short stature, typically not exceeding 3 or 4 ft in height
What is a possible cause of growth hormone deficiency in children?
Trauma-induced intracranial pressure
What is the primary goal of early screening in PKU management?
To prevent mental retardation
What is a key aspect of psychological support in PKU management?
Emphasizing the importance of dietary compliance
What is a characteristic of children with growth hormone deficiency at birth?
Normal size and weight
What is the primary focus of nutrition therapy in metabolic disorder prevention?
Instructing patients on indicated and contraindicated foods
What is the primary reason for a false negative result in a screening test for PKU done two to four days after birth?
Inadequate protein intake during testing
What is the purpose of dietary management in PKU?
To prevent mental retardation
What is the recommended diet for PKU patients after full brain development?
Low-protein, low-phenylalanine diet
What is the purpose of ferric chloride urine test?
To screen for PKU in infants over two weeks old
Why is apple allowed in the diet of PKU patients?
It is low in phenylalanine
What is the recommended range for phenylalanine levels in PKU patients?
Between 3-7 mg/100mL
What is the consequence of high levels of phenylalanine in PKU patients?
Mental retardation
What is the purpose of lofenalac in PKU management?
To prevent mental retardation
What is the primary goal of dietary management for phenylketonuria (PKU) patients?
To completely eliminate phenylalanine from the diet
What is the consequence of sudden withdrawal of high-dose steroids in individuals with adrenal insufficiency?
Higher chance of acute adrenal insufficiency
What is the primary mechanism of inheritance for phenylketonuria (PKU)?
Autosomal recessive gene
What is the primary purpose of genetic counseling in families with a history of phenylketonuria (PKU)?
To identify carriers of the mutated gene
What is the characteristic musty odor of urine associated with in phenylketonuria (PKU) patients?
A consequence of phenylalanine accumulation
What is the primary diagnostic tool for phenylketonuria (PKU)?
Guthrie capillary blood test
What is the primary consequence of untreated phenylketonuria (PKU)?
Brain damage and mental retardation
What is the primary goal of nutrition therapy in phenylketonuria (PKU) patients?
To maintain a balance of phenylalanine and tyrosine
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.
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.
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