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Familial homocystinuria.

Fareena Bilwani1, Nadir Ali Syed, Mohammed Usman

  • 1Department of Pathology, The Aga Khan University Hospital, Karachi, Pakistan.

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
|February 26, 2005
PubMed
Summary

This report details two siblings with familial homocystinuria, a genetic disorder. Both showed classic symptoms like lens dislocation, with one experiencing psychomotor retardation and the other deep vein thrombosis.

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Area of Science:

  • Genetics
  • Metabolic Disorders
  • Ophthalmology

Background:

  • Familial homocystinuria is an inherited metabolic disorder.
  • It is often associated with specific clinical manifestations.
  • Early diagnosis is crucial for managing complications.

Observation:

  • Two siblings presented with symptoms suggestive of familial homocystinuria.
  • Both exhibited dislocation of the right eye lens.
  • The brother had psychomotor retardation, and the sister had deep vein thrombosis.

Findings:

  • Elevated plasma homocysteine levels were detected in both siblings.
  • Positive urinary homocysteine confirmed the diagnosis.
  • The findings align with the classical presentation of the disorder.

Implications:

  • Highlights the importance of genetic counseling for affected families.
  • Underscores the varied clinical presentations of homocystinuria.
  • Emphasizes the need for prompt diagnosis and management to prevent severe outcomes.

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