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Multiple Choice

Which metabolic disorder, inherited in an autosomal recessive pattern, results from a defect in phenylalanine metabolism and is commonly screened for at birth?

Phenylketonuria exemplifies an inherited metabolic disorder caused by an enzyme defect in amino acid metabolism. Normally phenylalanine is converted to tyrosine by phenylalanine hydroxylase. When this enzyme is deficient, phenylalanine accumulates, which can lead to intellectual disability and other problems if not managed. It is inherited in an autosomal recessive pattern, meaning a child must inherit defective copies from both parents. Because early detection and dietary management can prevent serious outcomes, newborn screening programs routinely test for it at birth. Among the options, this is the one that fits the description. The other items are neurotransmitters and do not describe a metabolic disorder due to a phenylalanine metabolism defect or a condition screened at birth.

Phenylketonuria exemplifies an inherited metabolic disorder caused by an enzyme defect in amino acid metabolism. Normally phenylalanine is converted to tyrosine by phenylalanine hydroxylase. When this enzyme is deficient, phenylalanine accumulates, which can lead to intellectual disability and other problems if not managed. It is inherited in an autosomal recessive pattern, meaning a child must inherit defective copies from both parents. Because early detection and dietary management can prevent serious outcomes, newborn screening programs routinely test for it at birth. Among the options, this is the one that fits the description. The other items are neurotransmitters and do not describe a metabolic disorder due to a phenylalanine metabolism defect or a condition screened at birth.