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Clinical features

Authoring team

Clinical features include:

  • fine and fair hair
  • joint enlargement and skeletal abnormalities similar to those seen in Marfan's syndrome
  • ocular complications:
    • lens dislocation, classically downward
    • myopia
  • a malar flush
  • livedo reticularis
  • an association with thromboembolic episodes
  • osteoporosis
  • kyphoscoliosis
  • mental retardation - variable - this may be preventable by early diagnosis and dietary treatment

Patients often present with myopia and lens dislocation.

Reference

  1. Sellos-Moura M et al. Prevalence, characteristics, and costs of diagnosed homocystinuria, elevated homocysteine, and phenylketonuria in the United States: a retrospective claims-based comparison. BMC Health Serv Res 2020;20:183–96.

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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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