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Inborn errors of amino acid metabolism are metabolic disorders which impair the synthesis and degradation of
An example is
External links
* http://www.med.unibs.it/~marchesi/aminoaciddiseases.html
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Inborn error of metabolism — Classification and external resources ICD 10 E70 E90 ICD 9 … Wikipedia
metabolism — /meuh tab euh liz euhm/, n. 1. Biol., Physiol. the sum of the physical and chemical processes in an organism by which its material substance is produced, maintained, and destroyed, and by which energy is made available. Cf. anabolism, catabolism … Universalium
Newborn screening — See also: Apgar score Newborn screening Intervention MeSH D015997 Newborn screening is the process by which infants are screened shortly after birth for a list of disorders that are treatable, but di … Wikipedia
Guthrie test — The Guthrie test, also known as the Guthrie bacterial inhibition assay, is a medical test performed on newborn infants to detect phenylketonuria, an inborn error of amino acid metabolism. The test has been widely used throughout North America and … Wikipedia
Sodium nitroprusside — Sodium nitroprusside … Wikipedia
metabolic disease — ▪ pathology Introduction any of the diseases or disorders that disrupt normal metabolism, the process of converting food to energy on a cellular (cell) level. Thousands of enzymes participating in numerous interdependent metabolic pathways… … Universalium
Medical genetics — Clinical genetics redirects here. For the journal, see Clinical Genetics (journal). For a non technical introduction to the topic, see Introduction to Genetics. Part of a series on Genetics Key components Chromosome … Wikipedia
Glycine encephalopathy — (Non ketotic Hyperglycinemia) Classification and external resources Glycine OMIM 605899 … Wikipedia
Lesch–Nyhan syndrome — Lesch Nyhan syndrome Classification and external resources ICD 10 E79.1 ICD 9 277.2 … Wikipedia
Phenylketonuria — PKU redirects here. For other uses, see PKU (disambiguation). Phenylketonuria Classification and external resources ICD 10 E70.0 ICD 9 … Wikipedia
