What does inborn error of metabolism mean?

Definitions for inborn error of metabolism
in·born er·ror of me·tab·o·lism

This dictionary definitions page includes all the possible meanings, example usage and translations of the word inborn error of metabolism.

Princeton's WordNet

  1. inborn error of metabolismnoun

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

Wikipedia

  1. inborn error of metabolism

    Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of enzyme activities. The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances (substrates) into others (products). In most of the disorders, problems arise due to accumulation of substances which are toxic or interfere with normal function, or due to the effects of reduced ability to synthesize essential compounds. Inborn errors of metabolism are now often referred to as congenital metabolic diseases or inherited metabolic disorders. To this concept it's possible to include the new term of Enzymopathy. This term was created following the study of Biodynamic Enzymology, a science based on the study of the enzymes and their derivated products. Finally, inborn errors of metabolism were studied for the first time by British physician Archibald Garrod (1857–1936), in 1908. He is known for work that prefigured the "one gene-one enzyme" hypothesis, based on his studies on the nature and inheritance of alkaptonuria. His seminal text, Inborn Errors of Metabolism, was published in 1923.

ChatGPT

  1. inborn error of metabolism

    An inborn error of metabolism is a genetic disorder, usually inherited, that results in a deficiency or abnormality in the body's biochemical processes or metabolic pathways. These errors disrupt the body's ability to break down, synthesize or transport proteins, carbohydrates, or fats, which can cause a variety of common and more complex conditions and diseases. These disorders are usually present from birth and may cause physical and mental disabilities or illnesses.

Wikidata

  1. Inborn error of metabolism

    Inborn errors of metabolism comprise a large class of genetic diseases involving disorders of metabolism. The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances into others. In most of the disorders, problems arise due to accumulation of substances which are toxic or interfere with normal function, or to the effects of reduced ability to synthesize essential compounds. Inborn errors of metabolism are now often referred to as congenital metabolic diseases or inherited metabolic diseases. The term inborn error of metabolism was coined by a British physician, Archibald Garrod, in the early 20th century. He is known for work that prefigured the "one gene-one enzyme" hypothesis, based on his studies on the nature and inheritance of alkaptonuria. His seminal text, Inborn Errors of Metabolism was published in 1923.

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Numerology

  1. Chaldean Numerology

    The numerical value of inborn error of metabolism in Chaldean Numerology is: 8

  2. Pythagorean Numerology

    The numerical value of inborn error of metabolism in Pythagorean Numerology is: 6

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"inborn error of metabolism." Definitions.net. STANDS4 LLC, 2024. Web. 14 Jul 2024. <https://www.definitions.net/definition/inborn+error+of+metabolism>.

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