The following is an excerpt....
BASICS
Description
- Fabry’s disease was named after Johannes Fabry’s, dermatologist.
- It is a disorder of glycosphingolipid metabolism.
- A deficiency in α-galactosidase A (α-Gal A).
- Also known as:
- –Angiokeratoma corporis diffusum universale
- –Alpha-galactosidase A deficiency
- –Alpha-Gal A deficiency
- –Ceramide trihexosidase
- X-Linked disease
- Typically fatal in men by the fifth decade of life and in women by the seventh decade
- Primary manifestation:
- –Cutaneous, cardiovascular, cerebrovascular, renal, neurologic, psychiatric
ALERT:
Pediatric Considerations
- Alpha-Gal A deficiency presents in male children and female young adults.
- Prenatal and postnatal testing is available.
Epidemiology
Prevalence
- Fabry’s disease presents in 1 of 40,000 births.
- Presents in all races.
Risk Factors
Genetics
- X-linked inheritance pattern
- Gene defect is ...
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