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epilepsia in boli metabolice [Compatibility Mode]

epilepsia in boli metabolice [Compatibility Mode]

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Boala Ta Tay Sachs<br />

Epilepsie mioclonica, absente atipice, convulsii<br />

motorii<br />

Semne cerebeloase, extrapiramidale,<br />

encefalopatie, atrofie musculara sp<strong>in</strong>ala,<br />

dismorfisme, pete ret<strong>in</strong>iene rosu-cireasa<br />

rosu cireasa<br />

Gangliozidoza GM2, deficit de hexozam<strong>in</strong>idaza<br />

A<br />

Autozomal recesiva<br />

Mutatie a genei HEXA de pe cromozomul 15<br />

Diagnostic: hexozam<strong>in</strong>idaza este redusa <strong>in</strong> ser,<br />

leucocite si fibroblaste; limfocite vacuolizate

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