- succinylacetone
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A metabolite that occurs in the blood of people with tyrosinaemia
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succinylacetone
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succinylacetone — A minor metabolite that is elevated in individuals with tyrosinemia IA. * * * suc·ci·nyl·ac·e·tone (suk″sin əl asґə tōn) the compound formed by decarboxylation of succinylacetoacetate, occurring at elevated levels in… … Medical dictionary
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
succinylacetoacetate — suc·ci·nyl·ac·e·to·ac·e·tate (suk″sin əl ə se″to asґə tāt) a compound formed by reduction of fumarylacetoacetate; it occurs at elevated levels in tyrosinemia type I, due to the deficiency of fumarylacetoacetase. It … Medical dictionary
tyrosinemia type I — an autosomal recessive disorder due to mutation in the FAH gene (locus: 15q23 q25), which encodes fumarylacetoacetase, an enzyme important in tyrosine catabolism. It is characterized by accumulation of succinylacetoacetate and succinylacetone,… … Medical dictionary
SA — • sacro anterior; • salicylamide; • salicylic acid; • saline [solution]; • salt added; • sarcoidosis; • sarcoma; • scalenus anticus; • secondary amenorrhea; • secondary anemia; • secondary arrest; • self administration; • self agglutination; •… … Dictionary of medical acronyms & abbreviations
