Describe congenital malformations and inborn errors of metabolism. Cite one example of an inborn error of metabolism and describe the best nutrition-related intervention.

What will be an ideal response?


Congenital abnormality is a structural, functional, or metabolic abnormality present at birth. It is also called congenital anomalies. Congenital abnormalities may be caused by environmental or genetic factors, or by a combination of the two. Structural abnormalities are generally referred to as congenital malformations, and metabolic abnormalities are referred to as inborn errors of metabolism. Phenylketonuria is an inherited error in phenylalanine metabolism most commonly caused by a deficiency of phenylalanine hydroxylase, which converts the essential amino acid phenylalanine to the nonessential amino acid tyrosine. Phenylketonuria can be successfully managed by a low-phenylalanine diet. High phenylalanine protein foods such as meat, fish, eggs, and wheat are excluded from the diet.

Nutritional Science

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Nutritional Science

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Fill in the blank(s) with the appropriate word(s).

Nutritional Science

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Nutritional Science

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Indicate whether the statement is true or false

Nutritional Science