a genetic disorder in which an enzyme deficiency causes a substance called homocystine to build up in the blood, leading to mental handicap and skeletal abnormalities
Found op http://www.medichecks.com/glossary.cfm?ltr=H
Homocystinuria: A genetic disease due to an enzyme deficiency. Among other events, there is a buildup of the amino acid homocystine. Progressive mental retardation is common in untreated cases. The finding of vascular disease and premature arteriosclerosis in persons with homocystinuria led to the t...
Found op http://www.medterms.com/script/main/art.html?articlekey=3776
Recessive condition in which the enzyme (cystathione synthetase) that converts homocysteine and serine into cystathione, a precursor of cysteine, is missing. Deficiency of this enzyme has widespread consequences in connective tissue, circulation and nervous system.
Found op http://www.encyclo.co.uk/visitor-contributions.php
<biochemistry> Recessive condition in which the enzyme (cystathione synthetase) that converts homocysteine and serine into cystathione, a precursor of cysteine, is missing. ... Deficiency of this enzyme has widespread consequences in connective tissue, circulation and nervous system. ... Inher...
Found op http://www.mondofacto.com/facts/dictionary?homocystinuria
(ho″mo-sis″tin-u´re-ә) an inborn error of metabolism of sulfur-containing amino acids due to lack of the enzyme cystathionine synthase; it is characterized by homocystine in the urine and by mental retardation, enlargement of the liver, displacement of the lens of the eye, and car...
Found op http://www.encyclo.co.uk/local/21001
hereditary metabolic disorder involving methionine, a sulfur-containing essential amino acid. The metabolic sequence of methionine normally begins ... [2 related articles]
Found op http://www.britannica.com/eb/a-z/h/65
Homocystinuria, also known as cystathionine beta synthase deficiency or CBS deficiency, is an inherited disorder of the metabolism of the amino acid methionine, often involving cystathionine beta synthase. It is an inherited autosomal recessive trait, which means a child needs to inherit a copy of ...
Found op http://en.wikipedia.org/wiki/Homocystinuria
Type: Term Pronunciation: hō′mō-sis′ti-nyū′rē-ă Definitions: 1. A metabolic disorder characterized by sparse blond hair, long limbs, pectus excavatum, dislocation of lens, failure to thrive, mental retardation, psychiatric disturbances, and thromboembolic e...
Found op http://www.medilexicon.com/medicaldictionary.php?t=41345
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