TABLE 2.
Acute presentation | Chronic presentation |
---|---|
Nervous system | |
Acute encephalopathy | Hypotonia |
Seizures | Developmental delay |
Movement disorders (more frequent in PA) | Seizures |
Stroke‐like episodes (more frequent in MMA) | Movement disorders/dystonia |
Gastrointestinal system | |
Vomiting | Recurrent vomiting with ketoacidosis |
Feeding difficulties | Failure to thrive |
Pancreatitis | |
Haematopoietic system | |
Neutropenia, pancytopenia | Neutropenia, pancytopenia |
Heart (mostly in PA) | |
Acute cardiac failure (mostly based on cardiomyopathy) | Cardiomyopathy |
Arrhythmias | Prolonged QTc in ECG |
Kidney | |
Chronic renal failure (almost exclusively in MMA) |
Abbreviations: ECG, electrocardiogram; MMA, methylmalonic acidaemia; PA, propionic acidaemia; QTc, corrected QT interval.