Vitamin-responsive epileptic encephalopathies：维生素响应的癫痫性脑病.ppt

* * * * * * * * * * * * * * * * * * * * * * Các b?nh n?o ?áp ?ng v?i vitamin 1. các b?nh chuy?n hóa v?i co gi?t là tri?u ch?ng n?i b?t 2. các b?nh chuy?n hóa v?i co gi?t kh?ng th??ng xuyên - B?nh c.hóa trong giai ?o?n m?t can b?ng - B?nh c.hóa v?i các tri?u ch?ng TK ?a d?ng Brain Dev. 2011 Oct;33(9):790-5. Epilepsy in children with Methylmalonic Acidemia: electroclinical features and prognosis. Ma X, Zhang Y, Yang Y, Liu X, Yang Z, Bao X, Qin J, Wu X. ….Conclusion: Epilepsy is a common manifestation of patients with MMA. Partial seizure is more common than other seizure types. Urine organic acid analysis should be performed for children with unknown cause of epilepsy combined with other neurological manifestations, so as to promptly identify the etiology and improve the prognosis. Acta Paediatr Taiwan. 2003 Jul-Aug;44(4):246-8. Maple syrup urine disease presenting with neonatal status epilepticus Wang IJ, Chu SY, Wang CY, Wang PJ, Hwu WL. ?i?m báo Các th? ?áp ?ng v?i ??ng y?u t? c?a các b?nh chuy?n hóa D? hóa AminoAcid Tên Protein ch?c n?ng ??ng y?u t? (?i?u tr?) PhenylKetonuria (kinh ?i?n) PhenylKetonuria áp ?ng v?i BH4 PHA, PTPS, BCBD… Phe Hydroxyl BH4 t?ng h?p BH4 BH4 ? ??ng leucin (MSUD) ?áp ?ng v?i thiamine BCKDHB (E1B) DBT (E2) TPP-decarbox diOHlipoyl transacyl B1 B1 Homocystin-ni?u+ Gi?m Methionin máu MTHFR 5,10MTHF-5MTHF axit foliniccid MéthylMalonic Ac A MethylMalonic Ac B MMAA MMAB B12 mt transloc B12- AdoCbl B12 B12 MéthylMalonic Ac + Homocystin-ni?u MMAC/HC MMAD/HC B12 uptake B12 chuy?n hóa B12 B12 Các th? ?áp ?ng v?i Vitamin c?a các b?nh RL chuy?n hóa Acid B-oxydation axit béo Tên Enzyme/gene ch?c n?ng ??ng y?u t? (?i?u tr?) Glutaric Ac type 1 GCDH glutarylCoA DH (lysine, OHlysine, tryptophan) riboflavine ?a thi?u h?t AcylCoA DH (glutaric Ac type 2) ETF-QO flavoProt-Ubiq oxidoreductase riboflavine B?nh h?ch ?áy ?áp ?ng v?i Biotin/thiamine (th? tr? nh? nhi) Các b?t th??ng lam sàng : lo?n TL c?, co gi?t, th?t ?i?u,t?n