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Saudi experience with classic homocystinuria.

M Al-Essa1, M Rashed, P T Ozand

  • 1Departments of Pediatrics, and Biological and Medical Research, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.

Annals of Saudi Medicine
|March 8, 2007
PubMed
Summary

Classic homocystinuria, a genetic disorder causing elevated methionine, presents with diverse symptoms including vision and skeletal issues. Early detection and treatment are crucial for preventing severe complications.

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Area of Science:

  • Medical Genetics
  • Metabolic Disorders
  • Pediatrics

Background:

  • Classic homocystinuria is an autosomal recessive disorder caused by cystathionine beta-synthase deficiency.
  • This report details clinical, radiological, and neurophysiological findings in patients diagnosed at King Faisal Specialist Hospital and Research Centre (KFSH&RC).

Purpose of the Study:

  • To present the clinical, radiological, and neurophysiological findings of classic homocystinuria.
  • To raise awareness among healthcare professionals, particularly pediatricians in Saudi Arabia, regarding this condition.

Main Methods:

  • Retrospective analysis of 24 patients (15 female, 9 male) diagnosed with classic homocystinuria.
  • Evaluation included clinical examination, radiological imaging, neurophysiological tests, and biochemical assays (plasma methionine, fibroblast cystathionine synthase activity).

Main Results:

  • Common findings: ectopia lentis (20 patients), skeletal (18), vascular (9), and mental retardation (all).
  • Unusual cases: severe gastrointestinal bleeding, insulin-dependent diabetes mellitus, and bronchiectasis.
  • Elevated plasma methionine and deficient cystathionine synthase activity confirmed the diagnosis. Pyridoxine treatment was effective in only four patients.

Conclusions:

  • Early detection via blood spot screening (e.g., tandem mass spectrometry) and prompt treatment are vital.
  • Increased awareness can lead to earlier diagnosis and management, potentially preventing severe complications of homocystinuria.