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单词 lysinemia
释义

lysinemia


Thesaurus
Noun1.lysinemia - an inborn error of metabolism in which the lack of certain enzymes leads to an inability to metabolize the amino acid lysine; characterized by muscular weakness and mental retardationinborn error of metabolism - any of a number of diseases in which an inherited defect (usually a missing or inadequate enzyme) results in an abnormality of metabolism

lysinemia


hy·per·ly·si·ne·mi·a

(hī'pĕr-lī'si-nē'mē-ă), [MIM*238700] A metabolic disorder characterized by mental retardation, convulsions, anemia, and asthenia; associated with an abnormal increase of the amino acid lysine in the circulating blood due to a deficiency of lysine-ketoglutarate reductase. One variant [MIM*268700] is associated with a deficiency of α-aminoadipic semialdehyde synthase, resulting in hyperlysinemia and saccharopinemia.

lysinemia

A heterogeneous group of diseases with ↑ lysine or its metabolites in the blood, including hyperlysinemia, types I and II, saccharopurinuria, hydroxylysinuria, pipecolic acidemia and α-ketoadipic aciduria

ly·si·ne·mi·a

(lī'si-nē'mē-ă) Synonym(s): hyperlysinemia, lysinaemia.

lysinemia


  • noun

Words related to lysinemia

noun an inborn error of metabolism in which the lack of certain enzymes leads to an inability to metabolize the amino acid lysine

Related Words

  • inborn error of metabolism
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更新时间:2024/11/12 10:31:10