Table 2.
Biochemical and clinical complications in NBS and no-NBS patients.
| Number of patients |
Hypoglycemia |
High-CK |
High-ALT/AST |
Metabolic Acidosis |
Cardiomyopathy/ Arrhythmia |
Myopathy/ Rhabdomyolysis |
Neuropathy |
|||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Defects | No-NBS | NBS | No-NBS | NBS | No-NBS | NBS | No-NBS | NBS | No-NBS | NBS | No-NBS | NBS | No-NBS | NBS | No-NBS | NBS |
| CUD | 2 | 3 | 0 | 0 | 1 | 1 | 0 | 1 | 0 | 0 | 1 | 0 | 1 | 0 | 0 | 0 |
| CPTII | 2 | – | 0 | – | 1 | – | 1 | – | 0 | – | 0 | – | 2 | – | 0 | – |
| SCADD | – | 6 | – | 0 | – | 0 | – | 0 | – | 0 | – | 0 | – | 0 | – | 0 |
| MCADD | – | 5 | – | 2 | – | 0 | – | 2 | – | 1 | – | 0 | – | 0 | – | 0 |
| VLCADD | 1 | 4 | 0 | 0 | 1 | 2 | 0 | 2 | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 0 |
| MADD | 5 | 2 | 0 | 1 | 2 | 1 | 2 | 0 | 1 | 0 | 0 | 0 | 4 | 0 | 0 | 0 |
| MCADD/MADD | 1 | 2 | 0 | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| VLCADD/LCHADD | – | 1 | – | 0 | – | 0 | – | 0 | – | 0 | – | 0 | – | 0 | – | 0 |
Numbers refer to the number of patients presenting at least once the biochemical and clinical complication reported in columns, at diagnosis (in the case of no-NBS subjects) or during follow up (NBS subjects).