OMIM = Online Medalian Inheritance of Men
  • carbamazepin
  • diphenylhydantoin
  • enzyme replacement therapy
  • kidney transplantation
  • morphine
rare (1:55.000)
X-linked recessive
cardiac arrhythmia, dysrhythmia
cardiomyopathy, hypertrophic
cerebral vascular disease
corneal clouding
corneal deposits
coronary heart disease
hearing defect, deafness
myocardial infarction
onset, adolescent
onset, childhood
pain, abdominal
pain, extremities (acroparesthesia)
renal failure, acute/chronic
strokelike episodes
vertigo, dizziness
laboratory finding
alpha-Galactosidase A 100.00decreased activitytears
alpha-Galactosidase A 100.00decreased activityleucocytes
Globotriaosylceramide 0.000.00increasedurine
Globotriaosylceramide increasedplasma
alpha-Galactosidase A 100.00decreased activityplasma
ECG abnormalities -
Protein 50.0080.00increasedurine
urine sediment: mulberry cells positiveurine
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