Features | Abnormal clinical, biochemical and organ involvement | SymX group (n = 14) | AsymX group (NBS or asymptomatic with positive family history (n = 21) | Statistical analysis (Fisher’s Exact Test) |
---|---|---|---|---|
Clinical features | Seizure | 14.3% (n = 2) | 0% | 0.1529 |
Myalgia | 35.7% (n = 5) | 9.5% (n = 2) | 0.0897 | |
Fatigue | 14.3% (n = 2) | 0% | 0.1529 | |
Lethargy | 14.3% (n = 2) | 4.8% (n = 1) | 0.5508 | |
Hepatomegaly | 14.3% (n = 2) | 0% | 0.1529 | |
Hypotonia | 7.1% (n = 1) | 4.8% (n = 1) | 1 | |
Headache | 0% | 0% | 1 | |
Peripheral neuropathy | 7.1% (n = 1) | 0% | 0.4000 | |
Retinopathy/maculopathy | 7.1% (n = 1) | 4.8% (n = 1) | 1 | |
Investigations | Rhabdomyolysis | 50% (n = 7) | 9.5% (n = 2) | 0.0153* |
Lactic acidemia | 14.3% (n = 2) | 0% | 0.1529 | |
Myopathy | 14.3% (n = 2) | 0% | 0.1529 | |
Cardiac arrhythmia | 7.1% (n = 1) | 0% | 0.4000 | |
Dilated cardiomyopathy | 7.1% (n = 1) | 0% | 0.4000 | |
Acute tubular necrosis (acute kidney insufficiency) | 14.3% (n = 2) | 0% | 0.1529 | |
Hypoglycemia | 71.4% (n = 10) | 4.8% (n = 1) | 5.126 × 10–5* | |
Myoglobinuria | 21.4% (n = 3) | 0% | 0.0556 | |
Hospital admissionsa | CTD | No patients in this group with CTD | 0% (n = 0 out of 6) | 1 |
 | CPT-I deficiency | 40% (n = 2 out of 5) | 0% (n = 0 out of 8) | 0.1282 |
 | CACT deficiency | 50% (n = 1 out of 2) | 100% (n = 1 out of 1) | 1 |
 | LCHAD deficiency | 100% (n = 1 out of 1) | 100% (n = 3 out of 3) | 1 |
 | VLCAD deficiency | 100% (n = 2 out of 2) | 100% (n = 3 out of 3) | 1 |
Treatmenta | Carnitine | 14.3% (n = 2 out of 14) | 28.6% (n = 6 out of 21) | 0.4307 |
 | Long-chain fat restriction | 50% (n = 7 out of 14) | 28.6% (n = 6 out of 21) | 0.2882 |