Table 2.
MHBD Deficiency and Mitochondrial Enzyme Analysis
| Reference | Sex | Genotype | MHBD enzyme activity (controls) nmol/min/mg protein) |
RC Tissue | RC enzyme activity |
|---|---|---|---|---|---|
| Ensenaure et al, 2002 | M | c.388C>T (p.R130C) | 0.57 ± 0.17 (7.10 ± 0.83) | SM | Complex I deficiency |
| Olpin et al, 2002 | M | c.745G>C (p.E249Q) | 0.89 (7.3 ± 0.7) | SM | Complex I and IV deficiency |
| Sass et al, 2004 | M | c.388C>T (p.R130C) | 0 (1.06 ± 0.5) | SF | Normal RC activity |
| Perez-Cerda et al, 2005 | F | c.740A>G (p.N247S) | 3.81 (7.27 ± 1.16) | SM | Normal RC activity |
| Perez-Cerda et al, 2005 | M | c.740A>G (p.N247S) | 1.5 (7.27 ± 1.16) | SF | Normal RC activity |
| Current Report | M | c.740A>G (p.N247S) | 4.9± 0.5 (21.4 ± 0.1; 21.2 ± 0.2)a | SM Liver Heart |
Complex I, IV, V deficiency Complex I, IV, V deficiency Complex I, III, IV, V deficiency |
a
simultaneous controls
NA, not available; M, male; F, female; SM, skeletal muscle; SF, skin fibroblasts; RC, respiratory chain