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Clinical features

Authoring team

Patients are normal at birth but during early boyhood develop:

  • choreo-athetoid movements
  • scissoring position of legs
  • orange crystals may be found in the nappy
  • self-mutilation e.g. foot biting, head banging
  • reduced IQ (e.g. less than 65)
  • hypotonia, weakness and fits

Other features including megoblastic anaemia, gout and renal colic may occur.

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The content herein is provided for informational purposes and does not replace the need to apply professional clinical judgement when diagnosing or treating any medical condition. A licensed medical practitioner should be consulted for diagnosis and treatment of any and all medical conditions.

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