| 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) |
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Synonyms : Deficiency Disease, Cystathionine beta-Synthase, Cystathionine beta Synthase Deficiency Disease, Deficiency Disease, Cystathionine beta Synthase
| 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
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| 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
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| 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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