Final Answer:
Phenylketonuria is a disorder caused by the deficiency of one of the enzymes needed to convert the essential amino acid phenylalanine to the normally nonessential amino acid tyrosine; as a result, tyrosine cannot be made and becomes conditionally essential.(d)
Step-by-step explanation:
Phenylketonuria (PKU) is the disorder resulting from the deficiency of an enzyme needed to convert phenylalanine into tyrosine. This enzymatic deficiency leads to the accumulation of phenylalanine in the body, causing adverse effects on brain development and function if left untreated. As tyrosine cannot be produced, it becomes conditionally essential, needing to be supplemented in the diet.
PKU is an inherited metabolic disorder, primarily diagnosed through newborn screening. Individuals with PKU require a strict diet limiting phenylalanine intake, along with tyrosine supplementation to manage the condition. If untreated, elevated phenylalanine levels can lead to intellectual disability, developmental delays, and other neurological complications.
Understanding PKU and its impact on amino acid metabolism is crucial in managing the condition effectively. Early detection through newborn screening and adherence to a specialized diet are essential to prevent the neurological consequences associated with high phenylalanine levels. Moreover, ongoing monitoring and dietary management play a vital role in the long-term health outcomes of individuals living with PKU.
Learn more about PKU, its genetic basis, dietary management, and the importance of early detection to comprehend the complexities of this disorder and its implications for individuals affected by it.