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Updated: Jul 16, 2026
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Profiling of Methyltransferases and Other S-adenosyl-L-homocysteine-binding Proteins by Capture Compound Mass Spectrometry (CCMS)
Published on: December 20, 2010
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
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.
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.
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