Clinical features
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
- 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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