Inborn error of metabolism

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Inborn error of metabolism

a genetic biochemical disorder of a specific enzyme that forms a metabolic block, e.g., phenylketonuria. Any of a number of diseases in which an inherited defect (usually a missing or inadequate enzyme) results in an abnormality of metabolism.An inherited condition from parent to offspring where the lack of correct genetic sequences coding for particular enzymes results in a lack or absence of that enzyme, meaning certain biochemical pathways are not fully executed due to this missing component.