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epilepsia in boli metabolice [Compatibility Mode]
epilepsia in boli metabolice [Compatibility Mode]
epilepsia in boli metabolice [Compatibility Mode]
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Deficitul de cofactor asociat cu<br />
Molibden<br />
Deficit de sulfit oxidaza<br />
Un numar mic d<strong>in</strong> cazurile de defect<br />
functional al sulfit oxidazei sunt<br />
cauzate de deficienta propriuzisa a<br />
enzimei (xant<strong>in</strong> dehidrogenaza). Cea<br />
mai mareparte sunt datorate deficitului<br />
cofactorului pter<strong>in</strong>ic care cont<strong>in</strong>e<br />
molibden<br />
Debut de obicei <strong>in</strong> perioada neonatala<br />
cu encefalopatie encefalopatie, luxatie luxatie cristal<strong>in</strong>iana,<br />
cristal<strong>in</strong>iana<br />
anomalii craniofaciale, convulsii care<br />
nu raspund la tratament (frecvent<br />
mioclonice)<br />
IRM: degenerare degenerare chistica chistica a a substantei<br />
substantei<br />
albe, atrofie severa<br />
Testare pentru sulfiti <strong>in</strong> ur<strong>in</strong>a proaspata<br />
Deficitele enzimatice pot fi testate <strong>in</strong><br />
fibroblasti<br />
Alte t tulburari lb rari
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