Clinical and Laboratory Features of Homocystinuria
作者:
E. Cacciari,
S. Salardi,
期刊:
Pathophysiology of Haemostasis and Thrombosis
(Karger Available online 1989)
卷期:
Volume 19,
issue 1
页码: 10-13
ISSN:1424-8832
年代: 1989
DOI:10.1159/000216090
出版商: S. Karger AG
关键词: Homocystinuria;Cystathionine-β-synthase;Methionine;Cystine
数据来源: Karger
摘要:
Classic homocystinuria is an autosomal recessive metabolic disease due to a cystathionine-β-synthase deficiency with consequent blocking of homocysteine and serine condensation for producing cystathionine. The characteristic biochemical abnormalities in the blood and urine are: abnormal accumulation of methionine, abnormal presence of homocystine and low values of cystathionine, cysteine or cystine (disulfide of the cysteine). The most frequent clinical signs are: subluxation of the lenses, mental retardation of different degrees, long bones excessively lengthened, scoliosis, susceptibility to arterial and venous thromboembolism. The latter is frequent after surgery, and may be life-threatening. This disease must be differentiated from Marfan’s syndrome via laboratory tes
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