Table 5.
Primary CoQ10 deficiency patients reported in the literature
| Gene | No. of Patients (no. of Families) | No. of Pathogenic Variants | Age of Onset (range) | Common Clinical Manifestations |
|---|---|---|---|---|
| PDSS1 | 3 (2) | 3 | Infancy to 2 yr | Encephalopathy, development delay, SRNS, SND |
| PDSS2 | 7 (5) | 5 | Infancy to 2 yr | Kidney disease mainly SRNS, ataxia, SND |
| COQ2 | 31 (23) | 23 | Infancy to 68 yr | Kidney disease mainly SRNS, encephalopathy |
| COQ4 | 35 (26) | 22 | Infancy to 9 yr | Encephalopathy, development delay, seizure, hypotonia, cardiomyopathy |
| COQ5 | 5 (3) | 3 | Infancy to childhood | Ataxia, dysarthria, encephalopathy, development delay |
| COQ6 | 33 (24) | 16 | 2 mo to 16 yr | SRNS, SND |
| COQ7 | 32 (25) | 9 | Infancy to 15 yr | Spasticity, limb weakness, hypotonia, neuropathy, difficulty walking, hearing loss |
| COQ8A | 133 (104) | 89 | Infancy to 75 yr | Cerebellar ataxia, development delay, muscular symptoms |
| COQ8B | 97 (60) | 38 | 10 days to 32 yr | Kidney disease, mainly SRNS |
| COQ9 | 7 (4) | 5 | Infancy to 9 mo | Encephalopathy, seizure, renal tubulopathy, development delay |
NS, nephrotic syndrome; SND, sensorineural deafness; SRNS, steroid-resistant nephrotic syndrome. Infancy: 0–1 yr. For references, see sect. 6.1.