Familial homocystinuria

Fareena Bilwani, Nadir Ali Syed, Mohammed Usman, Mohammed Khurshid

Research output: Contribution to journalArticlepeer-review

3 Citations (Scopus)


Two cases of siblings diagnosed as cases of familial homocystinuria are reported. Both the cases have classical presentation of familial homocystinuria including history of dislocation of lens of the right eye. Brother had history of psychomotor retardation while sister had a significant history of deep vein thrombosis. Levels of plasma homocysteine were elevated and urinary homocysteine was positive in both the cases.

Original languageEnglish
Pages (from-to)106-107
Number of pages2
JournalJournal of the College of Physicians and Surgeons--Pakistan : JCPSP
Issue number2
Publication statusPublished - Feb 2005


  • Cystathione-β synthase
  • Familial homocystinuria
  • Homocysteine
  • N-methyl tetrahydrofolate reductase


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