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1 Richard H. Haas, MB, BChir, MRCP a,b, Sumit Parikh, MD c, Marni J. Falk, MD d, Russell P. Saneto, DO, PhD e, Nicole I. Wolf, MD f,g, Niklas Darin, MD h,bruce H. Cohen, MD c a Departments of Neurosciences and Pediatrics, University of California San Diego, La Jolla, California; b Departments of Neurosciences and Pediatrics, Rady Children s Hospital and Health Center, San Diego, California; c Division of Neuroscience, Cleveland Clinic, Cleveland, Ohio; d Division of Human Genetics, Children s Hospital of Philadelphia and University of Pennsylvania, Philadelphia, Pennsylvania; e Division of Pediatric Neurology, Children s Hospital and Regional Medical Center, University of Washington, Seattle, Washington; f Division of Child Neurology, University Children s Hospital, Heidelberg, Germany; g Division of Child Neurology, University Children s Hospital, Zürich, Switzerland; h Division of Child Neurology, Queen Silvia Children s Hospital, Göteborg, Sweden 1 / (mitochondrial diseases); (oxidative phosphorylation); (OXPHOS); (diagnosis); (children) OXPHOS = oxidative phosphorylation mtdna = mitochondrial DNA ndna = nuclear DNA MELAS = mitochondrial myopathy encephalopathy, lactic acidosis and strokelike episodes MRS = proton ( 1 H) magnetic resonance spectroscopy CSF = cerebrospinal.uid Address correspondence to Richard H. Haas, MB, BChir, MRCP, Departments of Neurosciences and Pediatrics, University of California San Diego, 9500 Gilman Dr, La Jolla, CA rhaas@ucsd. edu PEDIATRICS

2 [1] 1 / [2] 16 1/16000 [3] 1 / /5000 [1, 4] Leigh 18% [5] 3 3 DNA (mtdna) DNA (ndna) 150mtDNA 100 mtdna [6, 7] ndna [8 10] [11] ( 1) ( 2) (3) NAD ( ) NADH () ( ) ( ) 258 HAAS et al

3 1 (MRI) Leigh (MRS) 1.3 ppm ppm ( 5mM) (Wolff-Parkinson-White) / / () ( 4) 30 min ( ) 8% (CSF) [12] CSF [13] CSF ( ) ( ) Leigh (Kearns-Sayre syndrome) (Leber) γ [14] MRI [15, 16] [14, 16, 17] MRI MRI T2 (FLAIR) MRI T1 PEDIATRICS

4 [18] Leigh 2 ( ) () ( ) ( ) mtdna [18 20] (MELAS) [21 23] MRI [24 26] ( 1 H) (MRS) MRI CSF [14, 21, 27, 28] MRS ( diagnosis toolkitmri MRS ) () ( ) MELAS1Leigh1 260 HAAS et al

5 3 X MRI / (OXPHOS) mtdna ndna [6] ndna [29] DNA ( 850 ) mtdna (13) [30] [10] mtdna 50% 5 Q 10 ndna ( ) Q 10 [31] ndna [32] ( diagnosis toolkit ndna ) mtdna mtdna mtdna RNA RNA RNA 13 PEDIATRICS

6 mtdna mtdna Leigh MELAS [6, 33] mtdna ndna mtdna ndna [4, 34] mtdna ( Kearns-Sayre) RNA mtdna ( MELAS Leber ) ( diagnosis toolkit mtdna ) () 4 ( ) ( ) / (D ) CSF / ( ) [35] [36] 50% OXPHOS (Wilson Menkes [37, 38] ) ( [39] Fabry [40] ) [41, 42] [43] OXPHOS Rett [44] Aicardi-Goutières [45] [46] (Duchenne) [47] [48] ( ) OXPHOS [49 51] γ [52] HIV [53, 54] Reye [55] ( 2) Marinesco-Sjögren [56, 57] 262 HAAS et al

7 Leigh [18] (1 2) ( ) mtdna ndna [43] [58, 59] ( leitlinien ) (1 2) CSF (3) ndna ndna mtdna [60] ( 3) PEDIATRICS

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