Cystathioninuria, also called cystathionase deficiency, is an autosomal recessive metabolic disorder that results in an excess of cystathionine in the urine. It is associated with a congenital dysfunction of the enzyme cystathionase, or acquired deficiency of vitamin B6 which is essential for the function of this enzyme. The latter is usually rela...
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http://en.wikipedia.org/wiki/Cystathioninuria
A disorder characterised by inability to metabolise cystathionine, normally due to deficiency of cystathionase, with high concentration of the amino acid in blood, tissue, and urine; mental retardation is an associated condition; autosomal recessive inheritance. ... (05 Mar 2000) ...
Found on
http://www.encyclo.co.uk/local/20973
(sis″tә-thi″o-ne-nu´re-ә) a hereditary disorder of cystathionine metabolism, marked by increased concentrations in the urine, and due to deficiency of γ-cystathionase; mental retardation may be associated.
Found on
http://www.encyclo.co.uk/local/21001
Type: Term Pronunciation: sis′tă-thī′ō-nin-yū′rē-ă Definitions: 1. A disorder characterized by inability to metabolize cystathionine, normally due to deficiency of cystathionase, with high concentration of the amino acid in blood, tissue, and urine; mental retardation is an associated condition; autos...
Found on
http://www.medilexicon.com/medicaldictionary.php?t=22497
No exact match found.
