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Inborn error of metabolism is a rare enzyme deficiency; children with inborn errors of metabolism do not have certain enzymes that the body requires to maintain organ functions.

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Inborn error of metabolism is a rare enzyme deficiency; children with inborn errors of metabolism do not have certain enzymes that the body requires to maintain organ functions.

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cystic fibrosis ;)

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Inborn errors of metabolism can disrupt normal biochemical processes in the body, leading to a variety of symptoms such as developmental delays, intellectual disability, seizures, organ dysfunction, and metabolic imbalances. If left untreated, these conditions can result in serious health complications and potentially life-threatening situations for affected individuals. Early detection and management are crucial for improving outcomes for individuals with inborn errors of metabolism.

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He suggested that the symptoms of an inherited disease reflects a person's ability to make a particular enzyme.

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Vicky Allen LeGrys has written:

'The Laboratory diagnosis of selected inborn errors of metabolism' -- subject(s): Diagnosis, Inborn Errors Metabolism, Inborn errors of Metabolism, Laboratory Diagnosis, Methods

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