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HCU homocystinuria; hyperplasia cystica uteri
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homocystinuria <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 = urine
(11 Nov 1997)
MeSH(Medical Subject Headings) ¸ÂÃã °Ë»ö (http://www.nlm.nih.gov) °á°ú : 1 ÆäÀÌÁö: 1
  • Homocystinuria - »õâ An autosomal recessive inborn error of methionine metabolism usually caused by a deficiency of CYSTATHIONINE BETA-SYNTHASE and associated with elevations of homocysteine in plasma and urine. Clinical features include a tall, slender habitus, SCOLIOSIS, arachnodactyly, MUSCLE WEAKNESS, genu varis, thin blond hair, malar flush, lens dislocations, an increased incidence of MENTAL RETARDATION, and a tendency to develop fibrosis of arteries, frequently complicated by CEREBROVASCULAR ACCIDENTS and MYOCARDIAL INFARCTION. (From Adams et al., Principles of Neurology, 6th ed, p979)
    Synonyms : Deficiency Disease, Cystathionine beta-Synthase, Cystathionine beta Synthase Deficiency Disease, Deficiency Disease, Cystathionine beta Synthase
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homocystinuria Homocystinuria, also known as Cystathionine beta synthase deficiency, is inherited disorder of the metabolism of the amino acid methionine. It is inherited an autosomal recessive trait, which means the child is to inherit the defective gene from both parents. This defect leads to a multisystemic disorder of the connective tissue, muscles, CNS, and cardiovascular system. ...
Ãâó: en.wikipedia.org/wiki/Homocystinuria
homocystinuria A metabolic abnormality characterized by excessive amounts of the amino acid homocystine in the urine. Homocystinuria, which may be transmitted as an autosomal recessive trait, may result from deficient activity of certain enzymes involved in the metabolic conversion of the amino acid methionine to cysteine. ...
Ãâó: www.dbs-stn.org/glossary1.asp
homocystinuria An inherited disease caused by the absence of an enzyme essential to the metabolism of homocystine
Ãâó: www.betterbones.com/utilities/glossary.htm
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