Delay in diagnosis of homocystinuria

BMJ 1997; 314 doi: https://doi.org/10.1136/bmj.314.7077.369a (Published 01 February 1997) Cite this as: BMJ 1997;314:369

Neonatal screening avoids complications of delayed treatment

  1. Michael P Champion, Fellow in paediatric metabolic medicine, Newcomen Centrea,
  2. Charles Turner, Clinical biochemist, Nationwide Kidney Research Laboratorya,
  3. Susan Bird, Principal biochemist, Thames South East Phenylketonuria Screening Laboratorya,
  4. R Neil Dalton, Senior lecturer, Nationwide Kidney Research Laboratorya
  1. a Guy's Hospital, London SE1 9RT
  2. b University of Wales College of Medicine, Cardiff CF4 4XN

    Editor–Johan R M Cruysberg and colleagues highlight the delay in diagnosis in patients with homocystinuria, describing a mean interval of 11 years from the onset of major signs until diagnosis.1 Early detection reduces the development of ocular complications.2 This is not achieved by good biochemical control alone, lens dislocation still developing in children when treatment is started outside the neonatal period.3

    Neonatal screening affords the opportunity to improve outcome in homocystinuria, avoiding the complications that occur with delayed treatment. Untreated patients are particularly at risk of developing thrombotic disease, a clinically significant problem during surgery if the disease is undiagnosed. In his editorial David M Isherwood correctly states that hypermethioninaemia is unreliable for screening by Guthrie bacterial …

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