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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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T Tulburari lb i congenitale it l ale l glicozilarii li il ii<br />
Grup de de afectiuni afectiuni cauzate cauzate de glicozilarea anormala a oligozaharidelor cu<br />
azot; pana acum au fost implicate deficientele a 21 de enzime implicate <strong>in</strong><br />
calea meta<strong>boli</strong>ca<br />
Cele mai multe sunt descrise doar la cativa <strong>in</strong>divizi – tabloul cl<strong>in</strong>ic corect este<br />
dificil de identificat<br />
In CDG tip Ia, Ic, Ie, Ii, Ij, I k, Il, II a, II b, II e<br />
CDG tip Ia (deficit al fosfomanomutazei) – crizele epileptice apar relativ rar,<br />
mai i ales l i <strong>in</strong> ti timpul l episoadelor i d l acute t d de ti tip AVC (J (Jaeken k 2003) 2003).<br />
Mai frecvent <strong>in</strong> CDG Ic (Grunewald et al. 2000)<br />
Tipul de convulsii variaza si <strong>in</strong> cadrul fiecarui subgrup<br />
Tratamentul se face cu medicatie conventionala<br />
In CDG tip Ia se poate adm<strong>in</strong>istra manoza oral, iar <strong>in</strong> CDG tip IIg fucoza<br />
Trebuie evaluati evaluati copii cu epilepsie neexplicata si retard mental –<br />
Analiza glicoformelor serice ale transfer<strong>in</strong>ei (determ<strong>in</strong>area numarului de reziduuri<br />
sialice legate de transfer<strong>in</strong>a serica) [Jaeken & Carchon 2001, Marklová & Albahri<br />
2007, Sanz-Nebot Sanz Nebot et al 2007]<br />
Localizarea defectelor <strong>in</strong> CDG tip I
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