Homocystinuria: surveillance

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Homocystinuria: surveillance. Cognitive function, Cardiac assessment, Ophthalmic assessment. Fully referenced neurology checklist.

Clinical

  • Cognitive function
  • Cardiac assessment
  • Ophthalmic assessment

Routine tests

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Vitamins and minerals

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Other indices

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References

  1. Morris AA, Kožich V, Santra S, et al. Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency. J Inherit Metab Dis 2017; 40:49-74. 
  2. Woods E, Dawson C, Senthil L, Geberhiwot T. Cerebral venous thrombosis as the first presentation of classical homocystinuria in an adult patient. BMJ Case Rep 2017; pii: bcr2016217477.

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