Table 2.

Clinical symptoms associated with a homozygous CBS defect in analogy to common HHCys-related diseases (green).

Vessels:

- Arteries: intimal thickening, media destruction, fibrous plaques, thrombosis

→ cf.: atherosclerosis and its complications

- Veins: deep leg vein thrombosis, embolism

→ cf. thrombosis, embolism

If left untreated, most patients die in childhood or adolescence from consequences of vascular damage: arterial and venous thrombosis, embolism, myocardial infarction and stroke

Central nervous system:

- Mental retardation, epilepsy

→ cf. cognitive impairment, dementia, depression

Skeleton:

- Marfanoid habit with arachnodactyly, bone deformities, osteoporosis

→ cf. increased fracture rate

Eyes:

- Lens dislocation and severe myopia, also possible cataract, optic atrophy and retinal degeneration

→ cf. retinopathies and macular degeneration