inborn error of metabolism

any one of a group of inherited conditions in which there is a disturbance in either the structure, synthesis, function, or transport of protein molecules. There are over 1500 inborn errors of metabolism; examples are phenylketonuria, homocystinuria, and hypogammaglobulinaemia.

The new mediacal dictionary. 2014.

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  • Inborn error of metabolism — Classification and external resources ICD 10 E70 E90 ICD 9 …   Wikipedia

  • Inborn error of metabolism — A heritable disorder of biochemistry. Examples of inborn errors of metabolism include albinism, cystinuria (a cause of kidney stones), phenylketonuria (PKU), and some forms of gout, sun sensitivity, and thyroid disease. These are only a very few… …   Medical dictionary

  • inborn error of metabolism — any one of a group of inherited conditions in which there is a disturbance in either the structure, synthesis, function, or transport of protein molecules. There are over 1500 inborn errors of metabolism; examples are phenylketonuria,… …   Medical dictionary

  • inborn error of metabolism — noun any of a number of diseases in which an inherited defect (usually a missing or inadequate enzyme) results in an abnormality of metabolism • Hypernyms: ↑metabolic disorder, ↑genetic disease, ↑genetic disorder, ↑genetic abnormality, ↑genetic… …   Useful english dictionary

  • Inborn error of lipid metabolism — Classification and external resources Several fatty acid molecules ICD 10 E75 …   Wikipedia

  • Metabolism, inborn error of — A heritable disorder of the biochemistry of the4 body. Examples of inborn errors of metabolism include albinism, cystinuria (a cause of kidney stones), phenylketonuria (PKU), and some forms of gout, sun sensitivity, and thyroid disease. These are …   Medical dictionary

  • Inborn errors of purine-pyrimidine metabolism — are a class of inborn error of metabolism disorders specifically affecting purine metabolism and pyrimidine metabolism.An example is Lesch Nyhan syndrome.Urine tests may be of use in identifying some of these disorders.cite journal |author=Wevers …   Wikipedia

  • inborn — Initiated during development in utero. In the specific context of i. error of metabolism, it connotes a genetic disruption of an enzyme. See i. errors of metabolism, under error. SYN: innate. * * * in·born in bȯ(ə)rn adj …   Medical dictionary

  • Metabolism — Cell metabolism redirects here. For the journal, see Cell Metabolism. Structure of adenosine triphosphate, a central intermediate in energy metabolism Metabolism (from Greek: μεταβολή metabolē , change or Greek: μεταβολισμός metabolismos,… …   Wikipedia

  • error — 1. A defect in structure or function. 2. In biostatistics : 1) a mistaken decision, as in hypothesis testing or classification by a discriminant function; 2) the difference between the true value and the observed …   Medical dictionary

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