Clinical and laboratory features of homocystinuria.

@article{Cacciari1989ClinicalAL,
  title={Clinical and laboratory features of homocystinuria.},
  author={Emanuele Cacciari and Silvana Salardi},
  journal={Haemostasis},
  year={1989},
  volume={19 Suppl 1},
  pages={
          10-3
        }
}
Classic homocystinuria is an autosomal recessive metabolic disease due to a cystathionine-beta-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… CONTINUE READING
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