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A full-term infant boy is delivered without complications andhas normal APGAR scores. Routine newborn screening tests revealelevated levels of phenylalanine in his blood, leading to a diagnosisof phenylketonuria (PKU). What is the likely outcome if a dietaryintervention with restricted intake of high-protein foods is notinitiated by the age of 3 weeks?A. Development of cholestasisB. Development of neonatal seizuresC. Malformation of the enteric nervous systemD. AutismE. Profound intellectual disability

Question

A full-term infant boy is delivered without complications andhas normal APGAR scores. Routine newborn screening tests revealelevated levels of phenylalanine in his blood, leading to a diagnosisof phenylketonuria (PKU). What is the likely outcome if a dietaryintervention with restricted intake of high-protein foods is notinitiated by the age of 3 weeks?A. Development of cholestasisB. Development of neonatal seizuresC. Malformation of the enteric nervous systemD. AutismE. Profound intellectual disability

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Solution

Phenylketonuria (PKU) is a genetic disorder characterized by an inability to metabolize the amino acid phenylalanine due to a deficiency in the enzyme phenylalanine hydroxylase. Elevated levels of phenylalanine can be toxic to the brain and lead to severe neurological damage if not managed properly.

Let's analyze the potential outcomes if a dietary intervention with restricted intake of high-protein foods is not initiated by the age of 3 weeks:

A. Development of cholestasis: Cholestasis is a condition where bile flow from the liver is reduced or blocked. This is not typically associated with PKU.

B. Development of neonatal seizures: While seizures can occur in various metabolic disorders, they are not the primary concern in untreated PKU.

C. Malformation of the enteric nervous system: This condition is not related to PKU. PKU primarily affects the central nervous system rather than the enteric nervous system.

D. Autism: While there is some debate about the relationship between PKU and autism, autism is not the primary or most common outcome of untreated PKU.

E. Profound intellectual disability: This is the most likely outcome. Without dietary intervention, the accumulation of phenylalanine in the blood can lead to severe brain damage, resulting in profound intellectual disability. Early dietary management is crucial to prevent this outcome.

Therefore, the correct answer is:

E. Profound intellectual disability

This problem has been solved

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