グルコーストランスポーター1欠損症症候群（GLUT …

1 GLUT-1DS (glucose transporter type 1 deficiency syndrome GLUT-1 DS OMIM 606777) 1991 De Vivo GLUT-1DS 200 2011 57 10 2 SLC2A1 OMIM 138140 de novo 4 Doose GLUT-1DS

2 SLC2A1 GLUT -1DS GLUT-1DS 40 mg/dL MRI -4 Hz 3-O - methyl-D-glucose GLUT-1DS 3 1 4 1 GLUT-1DS 2 3+ GLUT1 CoA 3- CoA HMG-CoA , HMG-CoA CoA HMG CoA - 100 8 10 -CoA.

3 3- CoA 30 7 9 HMG -CoA 8 9 HMG -CoA 100 9 9 ACAT1 CoA 3- CoA OXCT1 HMG CoA HMGCS1 HMG-CoA HMGCL CoA 3- CoA 6 2 CoA 3 CoA - HMG CoA HMG -CoA Reye CoA 3- CoA HMG-CoA CoA 3- CoA HMG CoA HMG-CoA HMG- CoA - HMG -CoA L- 10 HMG -CoA 2

4 156 78 26 40 3 - 1 (CETP ) 1.

5 1980 HDL- 2. CETP 90 CETP (Int14A, D442G) Int14A D442G 1 5-6 3. HDL LDL (CETP) HDL HDL 4. HDL - 150-250 mg/ dL 50-150 mg/dL AI, AII, E CETP 5. 6. 1 7. NADH NADH neonatal intrahepatic cholestasis caused by citrin deficiency, NICCD II adult-onset type 2 citrullinemia, CTLN2 1/65 1/17.

6 000 CTLN2 1/10 20 CTLN2 CTLN2 NICCD 1/4 SLC25A13 2 1 1 NICCD 1 2 CTLN2 NICCD 10 CTLN2 CTLN2 50 3 2 1 1 NICCD MCT A, D, E, K 2 MCT 3 CTLN2 MCT 200 NICCD CTLN2 CTLN2 11 79 # # Cit Gal, Met 5 NICCD CTLN2 NICCD neonatal intrahepatic cholestasis caused by citrin deficiencyCTLN2 adult-onset type II citrullinemiaASS.

7 Argininosuccinatesynthase NH3 Cit ASS >50 TCA TCA -CoA 371 50 25 1 10 46 -CoA 10 1 E1 (PDHA1) E1 (PDHB) E2 (DLAT) E3 (DLD) PDP1-2 PDK1-4 PDHX (LIAS) PC PEPCK1 2 FH -CoA SUCLA2 SUCLG1 Leigh -CoA -CoA 3 B1

8 4 N 400 OTC X HHH 60 100kcal/kg/d 60 100kcal/kg/d (-COOH)

9 195 1:4 1:9 1:50 I (GA ) 1:20 1:50 1:18 CoA CoA CoA I CoA CoA (PCC) 3- CoA (MCC) (PC) CoA (ACC) 4 3- -CoA 30 3 6 4 1 6 3 8 3 10

10 15 6 13 ( II / 4000 6000 ATP TCA Ia 90 V)