1) Seizure-causing disorder
Found on
https://www.crosswordclues.com/clue/homocystinuria
==Signs and symptoms== This defect leads to a multisystemic disorder of the connective tissue, muscles, CNS, and cardiovascular system. Homocystinuria represents a group of hereditary metabolic disorders characterized by an accumulation of the amino acid homocysteine in the serum and an increased excretion of homocysteine in the urine. Infants app...
Found on
http://en.wikipedia.org/wiki/Homocystinuria
hereditary metabolic disorder involving methionine, a sulfur-containing essential amino acid. The metabolic sequence of methionine normally begins ... [2 related articles]
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http://www.britannica.com/eb/a-z/h/65
<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. ... Inheritance: autosomal recessive. ... Origin: Gr. Ouron...
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http://www.encyclo.co.uk/local/20973
(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 cardiovascular and skelet...
Found on
http://www.encyclo.co.uk/local/21001
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 on
http://www.encyclo.co.uk/visitor-contributions.php
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 episodes; some patients have alleviation of symptom...
Found on
http://www.medilexicon.com/medicaldictionary.php?t=41345
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 theory that homocystine may be a factor in heart di...
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http://www.medterms.com/script/main/art.asp?articlekey=3776
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 on
https://www.encyclo.co.uk/local/20875
No exact match found.
