Patient | Clinical syndrome | OXPHOS/PDH deficiency | Mt-DNA mutation | Muscle histopathology | Abnormal electron microscopy | Suggestive organic aciduria | Afflicted sibling |
---|---|---|---|---|---|---|---|
1 | Leigh | Complex V | T8993G | ||||
2 | Leigh | PDH E1 | |||||
3 | Leigh | Generalised | |||||
4 | Leigh | Complex I | 3-MGA | ||||
5 | NARP | T8993G | Patient 6 | ||||
6 | NARP | T8993G | Patient 5 | ||||
7 | MiMyCa | Complex I | RRF | Yes | |||
8 | MiMyCa | RRF | |||||
9 | Barth | 3-MGA | |||||
10 | LHON | 3460 | |||||
11 | E3 deficiency | PDH E3 | |||||
12 | E3 deficiency | PDH E3 | |||||
13 | Costeff | 3-MGA | |||||
14 | Costeff | 3-MGA | Patient 15 | ||||
15 | Costeff | 3-MGA | Patient 16 | ||||
16 | Anaemia + myopathy | Complex I + IV | Yes | ||||
17 | IPO + NB | Complex IV | No COX staining | Patients 18,19 | |||
18 | IPO + NB | Patients 17,19 | |||||
19 | IPO + NB | Patients 17,18 | |||||
20 | Encephalopathy | Complex I | |||||
21 | Encephalopathy | Complex I | |||||
22 | Encephalopathy | Complex I | Patient 23 | ||||
23 | Encephalopathy | Patient 22 | |||||
24 | Encephalopathy | Complex I | |||||
25 | Encephalopathy | Complex I + III + IV | Yes | ||||
26 | Encephalopathy | Complex I | |||||
27 | Encephalopathy | Complex I | |||||
28 | Encephalopathy | Complex I | Yes | ||||
29 | Encephalopathy | Complex II | 3-MGA | ||||
30 | Encephalopathy | Complex I | |||||
31 | Encephalopathy | PDH E1 + generalised |
Generalised refers to a generalised deficiency of all respiratory chain enzymes.
COX, cytochrome C oxidase (complex IV); IPO + NB, intestinal pseudo-obstruction and neurogenic bladder; LHON, Leber’s hereditary optic neuropathy; 3-MGA, 3-methylglutaconic aciduria; MiMyCa, maternally inherited myopathy and cardiomyopathy; Mt-DNA, mitochondrial DNA; NARP, neuropathy, ataxia, retinitis pigmentosa; PDH, pyruvate dehydrogenase; OXPHOS, oxidative phosphorylation or respiratory chain enzymes; RRF, ragged red muscle fibres.