Definitions
Acroparesthesia: Burning pain in hands and/or feet
Angiokeratoma: Small skin marks of red to blue colour between the belly button and knees
Cornea verticellata: Corneal deposits at the level of the basal epithelium forming a faint golden-brown whorl pattern
Hypertrophic cardiomyopathy: Hypertrophic cardiomyopathy is defined by the presence of increased left ventricular wall thickness that is not solely explained by abnormal loading conditions
Left ventricular hypertrophy: Enlargement and thickening of the left ventricle
Proteinuria: Excess protein in the urine
Transient ischaemic attack: The development of stroke-like symptoms that completely disappear within 24 hours; a brief episode of cerebral ischaemia that is usually characterized by temporary blurring of vision, slurring of speech, numbness, paralysis, or syncope and is often predictive of a serious stroke
Gal A et al. J Inherit Metab Dis 201116