Organ system | Sign/Symptom |
---|---|
General | Reduced quality of life; reduced well-being; reduced school/work performance and engagement in leisure activities, including sports |
 | Psychosocial and behavioral deficits |
 | Poor weight gain |
Nervous system | Chronic burning pain |
 | Attacks of excruciating pain |
 | Paresthesias/dysesthesias |
 | Sensory losses |
 | Hypohidrosis/anhidrosis |
 | Abdominal cramp, (post-prandial) diarrhoea, bloating, nausea |
 | Tinnitus, hearing loss |
 | Dizziness |
Skin | Vascular lesions (angiokeratoma, Figure 1) |
Eyes | Corneal/lenticular opacities (seen on slit lamp examination, Figure 2) |
 | Vascular tortuosity (retina, conjunctiva) |
Kidneys | Microalbuminuria, proteinuria |
 | Impaired concentration ability |
 | Increased urinary GL-3 excretion |
 | Renal hyperfiltration (early), decrease in glomerular filtration rate |
Heart | ECG abnormalities (for example, short PR interval) |
 | Arrhythmias, hypertrophic cardiomyopathy (young adults) |