Table 2.
Summary of the clinical presentation of 52 patients with combined respiratory complex deficiency
| Patient/gender | Family history | Age at symptom onset/death |
Clinical presentation |
Additional symptoms |
Muscle histochemistry |
Respiratory chain deficiency | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| muscle | CNS | heart | liver | SDH+ | COX– | Other | |||||
| P1/F | 5 w/4 m | + | – | – | – | LA | – | – | I + IV | ||
| P2/M | Consanguinity | 4 m/8 m | + | – | – | – | Respiratory failure | – | – | Lipid | I + III + IV |
| P3/M | Consanguinity | 2 w/3 w | + | – | – | – | LA | – | ++ | I + III + IV | |
| P4/F | Consanguinity, 2 siblings died | 1 m/1 m | + | – | + | – | – | +++ | I + IV | ||
| P5/M | 24 d | + | + | – | – | + | – | III + IV | |||
| P6/F | 18 m | + | + | – | – | CC agenesia | – | – | I + III + IV | ||
| P7/M | Consanguinity, 2 affected siblings | 15 d | + | – | – | – | Respiratory failure | – | ++ | Lipid | I + III + IV |
| P8/F | Consanguinity | Birth | + | – | + | – | LA | – | ++ | II/III + IV | |
| P9/M | 13 y | + | – | – | – | – | +++ | Inflammation | I+III+IV | ||
| P10/F | Consanguinity | 3 w/2 m | + | – | + | – | LA | ++ | ++ | I + III + IV | |
| P11/F | Consanguinity, 1 affected sibling | 12 m | + | – | + | – | + | – | I + IV | ||
| P12/F | 3 y | + | + | – | – | LA | + | – | I + IV | ||
| P13/F | 10 y | + | + | – | + | int.pseudoobstr, cataract | – | – | Lipid | I + IV | |
| P14/M | 3 m | + | – | – | – | + | – | I + III + IV | |||
| P15/M | Birth | + | + | – | – | small ASD | + | – | I + III | ||
| P16/F | 1 y | + | + | – | – | LA | – | – | Lipid | I + II/III | |
| P17/F | Birth/4 m | + | – | + | – | LA | + | – | I + IV | ||
| P18/F | Consanguinity | Birth | + | + | + | – | long-chain acyl-carnitine↑ | – | – | Lipid | I + III, mild IV |
| P19/M | Birth | + | + | – | – | arthrogryposis, CC agenesia, dysmorphy, deafness | + | – | I + IV | ||
| P20/M | 4 y | + | + | – | – | Ophthalmople-gia, LA basal ganglia lesion | – | – | I + IV | ||
| P21/M | Birth/3 d | + | + | – | – | – | ++ | I + IV | |||
| P22/M | 15 m | + | + | – | + | Respiratory failure | – | + | I + IV | ||
| P23/F | 12 m | + | + | – | – | Cellular immundefect | nd | nd | nd | I + IV | |
| P24/M | Consanguinity | 4 y | + | + | – | – | LA | – | – | I + IV | |
| P25/F | Consanguinity | Birth | + | + | – | – | LA, coma | – | + | I + IV | |
| P26/M | Birth | + | – | – | – | Floppy baby | + | – | I + IV | ||
| P27/M | Birth | + | + | + | – | – | + | I + III + IV | |||
| P28/F | 10 y | + | + | – | – | Basal ganglia calcification | – | + | I + IV | ||
| P29/F | Consanguinity | 2 y | + | + | – | – | nd | nd | nd | I + III | |
| P30/F | Affected twin sister | 2 y | + | + | – | + | – | – | I + IV | ||
| P31/F | Consanguinity | 4 y | + | + | – | – | ++ | – | I + IV | ||
| P32/F | Consanguinity, affected sibling, cousin | 10 m | + | + | – | – | Optic atrophy, brain atrophy | – | – | I + II/III | |
| P33/F | 2 y/3 y | + | + | – | + | Demyelination on autopsy | + | – | I + IV (liver) | ||
| P34/F | Consanguinity, affected sibling | Birth/1 m | + | + | – | – | LA | – | – | I + IV | |
| P35/F | Birth/3 w | + | – | + | – | LA | ++ | +++ | I + IV | ||
| P36/M | Consanguinity, affected brother | 18 m/2 y | + | – | – | + | + | – | I + IV (liver) | ||
| P37/F | 18 m | – | – | – | + | Reversible disease | + | – | I + IV (muscle and liver) | ||
| P38/M | Consanguinity | 16 y | + | + | – | – | Diabetes, myoclonic jerks | – | ++ | I + IV | |
| P39/M | <1 y | – | + | – | + | CC agenesia, leukodystrophy | – | + | I + IV | ||
| P40/F | <1 y | + | – | – | – | Respiratory failure | – | +++ | I + III + IV | ||
| P41/F | <1 y | + | + | – | – | bilateral. IVH,SH | – | – | I + III + IV | ||
| P42/M | 1–2 y? | + | + | + | – | – | +++ | I + IV | |||
| P43/M | 4 m/8 m | + | – | + | – | – | +++ | I + IV | |||
| P44/F | <1 y | + | – | + | – | – | – | Lipid | I + III + IV | ||
| P45/M | Consanguinity | <1 y | + | + | – | – | Deafness, renal tubular acid. | – | +++ | I + IV | |
| P46/M | 9 y | + | + | – | – | Deafness, bulbar symptoms | – | – | I + IV | ||
| P47/M | 3 y | + | + | + | – | Metabolic acidosis | nd | nd | nd | I + IV | |
| P48/F | Consanguinity, affected sister | nd | + | – | + | – | – | ++ | I + III + IV | ||
| P49/M | birth/<1 y | + | – | + | – | – | +++ | I + III + IV | |||
| P50/F | <1 y | + | + | + | – | LA | nd | nd | nd | I + IV | |
| P51/M | birth | + | – | + | – | – | +++ | I + III + IV | |||
| P52/M | 27 y | + | + | + | – | Pancytopenia | – | +++ | I + IV | ||
+++ = severe (>25%); ++ = moderate (5–25%); + = mild (<5%).
ASD = atrial septal defect; CC = corpus callosum; IVH = intra-ventricular haemorrhage; LA = lactic acidosis; mt = mitochondria; nd = not determined; SH = subdural haemorrhage; d = day; w = week; y = year; m = month.