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Updated: Aug 15, 2026
09:45
In Vivo Quantification of Protein Turnover in Aging C. Elegans using Photoconvertible Dendra2
Published on: June 13, 2020
[Untreated homocystinuria in adulthood]
1Robert-Bosch-Krankenhaus, Zentrum für Innere Medizin, Abteilung für Allgemeine Innere Medizin und Nephrologie, Stuttgart.
Deutsche Medizinische Wochenschrift (1946)
|October 22, 2005
Summary
Premature osteoporosis in adults may indicate homocystinuria, a metabolic disorder. Early diagnosis and treatment, including vitamins and betaine, can manage elevated homocysteine levels.
Area of Science:
- Metabolic disorders
- Genetics
- Endocrinology
Background:
- Osteoporosis is a skeletal disorder characterized by compromised bone strength.
- Homocystinuria is a rare inherited metabolic disorder affecting homocysteine metabolism.
Observation:
- A 44-year-old man presented with severe osteoporosis, myopia, lens dislocation, and retinal detachment.
- Physical examination revealed a Marfan-like appearance and funnel chest, initially suggesting Marfan syndrome.
Findings:
- Elevated serum homocysteine and urinary homocystine confirmed homocystinuria, specifically cystathionine beta-synthase deficiency.
- Treatment with folate, vitamin B6, betaine, and vitamin B12 led to a significant reduction in homocysteine levels.
Implications:
- This case highlights the importance of considering homocystinuria in adults with premature osteoporosis.
- Associated symptoms like lens dislocation and retinal detachment can be crucial diagnostic clues for homocystinuria.
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