| FABRY DISEASE | |
| ANDERSON-FABRY DISEASE | |
|
301500
OMIM = Online Mendelian Inheritance of Men | |
|
324 | |
| Alpha-galactosidase A | |
| 3.2.1.22 | |
| rare (1:55.000) X-linked recessive mutations in the GLA gene | |
| Laboratory findings | alpha-Galactosidase A dec (tears) alpha-Galactosidase A dec (plasma) alpha-Galactosidase A dec (leucocytes) Globotriaosylceramide inc (urine) Globotriaosylceramide inc (plasma) Protein inc (urine) urine sediment: mulberry cells inc (urine) |
| Symptoms | renal failure, chronic anemia angiokeratoma cardiac arrhythmia, dysrhythmia cardiomyopathy cardiomyopathy, hypertrophic cerebral vascular disease corneal clouding corneal deposits coronary heart disease depression diarrhea ECG abnormalities [-] fever hearing defect, deafness hyperhidrosis hypertension hypohidrosis myocardial infarction, myocardial ischemia nausea onset, adolescent onset, childhood pain, abdominal pain, extremities (acroparesthesia) paresthesia proteinuria renal failure, acute/chronic strokelike episodes vertigo, dizziness vomiting |