Symptoms of the classic form, in males with low activity of the enzyme, usually become apparent in childhood or adolescence. They include:
- acroparesthesias (severe pain in the hands and feet)
- angiokeratomas - small dark red/purple raised spots composed of surface dilated capillaries (small blood vessels)
- hypohidrosis (reduced sweating)
- cloudiness of the front part of the eye (corneal opacity)
- bowel disturbance
Gradual deterioration of kidney function usually occurs in men. They may also develop heart problems such as an enlarged heart and neurological problems, including stroke. Males with a higher level of enzyme activity are more mildly affected. They show features later in life, mostly with heart or kidney problems with few of the other symptoms.
Females typically have milder symptoms at a later age of onset than males. However, this is very variable. Some females may be relatively asymptomatic (have no symptoms) throughout a normal life span or may have symptoms as severe as those observed in males.