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inborn error of metabolismmetabolic disordercongenital diseasegenetic abnormalitygenetic defectgenetic diseasegenetic disorderhereditary conditionhereditary diseaseinherited diseaseinherited disordergalactosemialysinemiaNiemann-Pick diseasephenylketonuriaPKU

inborn error of metabolism

noun

1 inborn error of metabolism

Any of a number of diseases in which an inherited defect (usually a missing or inadequate enzyme) results in an abnormality of metabolism.

is a specific kind of: metabolic disorder | congenital disease, genetic abnormality, genetic defect, genetic disease, genetic disorder, hereditary condition, hereditary disease, inherited disease, inherited disorder.

is a broader term that covers: galactosemia | lysinemia | Niemann-Pick disease | phenylketonuria, PKU.

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