PEROXISOMALA SJUKDOMAR - BLF

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Acyl-CoA Acyl CoA defekt (3:3) MR vid 2 år: utbredd kortikal dysmorfism, dysmorfism, pachygyri MR vid 5 år: bilat nya områden med hög T2 signal, vid sidoventriklarna sänkt T1 som nekrotiska zoner ser ut som X-ALD X ALD s-VLCFA VLCFA C26:0/C 22:0 = 0.060 ( < 0.04) fibroblast - “ “ = 0.82 ( < 0.20) acylCoA oxidas defekt
Acyl-CoA Acyl CoA defekt (3:4)
Page 1: PEROXISOMALA SJUKDOMAR
Page 4 and 5: microbodies and mitochondria (Rhodi
Page 6 and 7: the peroxisome is linked to a disor
Page 8 and 9: VLCFA are elevated in px disorders
Page 10 and 11: Peroxisomala biogenesdefekter Zellw
Page 12 and 13: Zellweger syndrom Genetiskt heterog
Page 14 and 15: Klassiskt Zellweger syndrom (1:2) h
Page 16 and 17: Klassiskt Zellweger syndrom (2:2)
Page 18 and 19: Klassiskt Zellweger syndrom (2:4)
Page 20 and 21: Peroxisomala enzymdefekter • ββ
Page 22 and 23: Specifik peroxisomal enzymdefekt Ac
Page 26 and 27: Acyl-CoA Acyl CoA defekt (3:5)
Page 28 and 29: Acyl-CoA Acyl CoA oxidas + thiolas
Page 30 and 31: — — —
Page 32: ALD cerebral form
Page 35 and 36: RCDP II

PEROXISOMALA SJUKDOMAR - BLF

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