inborn error of metabolism
Noun: A genetic disorder present from birth, caused by a defect in a specific gene. This defect typically results in a missing or deficient enzyme, which is a protein that speeds up chemical reactions in the body. The lack of this enzyme disrupts normal metabolic processes—the complex set of life-sustaining chemical reactions—leading to the abnormal buildup or deficiency of specific substances. This can cause various health problems, intellectual disability, or organ damage.
This term is used in medical and scientific contexts to classify a group of specific hereditary conditions. It is a formal, technical term.
Examples: * Phenylketonuria (PKU) is a classic inborn error of metabolism where the body cannot process an amino acid called phenylalanine. * Early screening of newborns can help detect an inborn error of metabolism before symptoms appear. * The doctor explained that the child's symptoms were consistent with an inborn error of metabolism.
- The term is often used in its plural form, "inborn errors of metabolism," when referring to the entire category of such disorders.
- Research into inborn errors of metabolism has led to better dietary treatments.
- Metabolic disorder (noun): A broader term for any condition that disrupts normal metabolism, which may or may not be genetic/inborn.
- Enzymopathy (noun): A more specific technical term for a disorder caused by a defective enzyme.
- Inherited metabolic disorder
- Congenital metabolic disease
This term has a single, specific meaning in medicine and genetics. It does not have other common definitions.
This is a fixed, technical noun phrase. It is not used in idiomatic expressions or as part of phrasal verbs.
- any of a number of diseases in which an inherited defect (usually a missing or inadequate enzyme) results in an abnormality of metabolism
