deficiency

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Related to molybdenum cofactor deficiency: Sulfite oxidase deficiency

deficiency

Biology the absence of a gene or a region of a chromosome normally present
References in periodicals archive ?
Clinical and biochemical presentations of the molybdenum cofactor deficiency in newborn.
A proton nuclear magnetic resonance (1H-NMR) spectrometric method can be used to measure many compounds of purine and pyrimidine metabolism (13), but it has a major disadvantage in that it fails to detect uric acid and 2,8-dihydroxyadenine, which are very useful markers for the diagnosis of APRT deficiency, XDH deficiency, molybdenum cofactor deficiency, PRPPS super-activity, and HGPRT deficiency.